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Oculodentodigital Dysplasia

Oculodentodigital Dysplasia (ODDD) — Comprehensive Disease Characteristics Report

2026-04-04
Falcon MONDO:0008111 Model: Edison Scientific Literature 38 citations

Oculodentodigital Dysplasia (ODDD) — Comprehensive Disease Characteristics Report

Executive summary

Oculodentodigital dysplasia (ODDD) is a rare, predominantly autosomal dominant, pleiotropic developmental disorder characterized by a core triad of ocular, dental, and digital anomalies and caused most commonly by pathogenic variants in GJA1, encoding connexin 43 (Cx43), a gap-junction/hemichannel protein essential for intercellular communication. (hindu2023oculodentodigitaldysplasiaa pages 8-8, paznekas2003connexin43(gja1) pages 1-3)

A major 2009 genotype–phenotype synthesis of 54 genotyped families (177 affected individuals) quantified high but variable involvement of facial (92% of families), ocular (68%), dental (70%), and digital (80%) features and documented neurologic manifestations in ~30% of families. (paznekas2009gja1mutationsvariants pages 5-6)

Recent research has refined mechanistic understanding by solving a high-resolution cryo-EM structure of human Cx43 in a putative closed state (2023) and by describing additional CNS-heavy phenotypes including mosaic de novo GJA1 variants with delayed myelination and seizures (2024), emphasizing allelic and tissue-mosaic effects. (qi2023structureofthe pages 1-2, shimomura2024raremosaicvariant pages 1-2)

1. Disease information

1.1 Definition/overview

ODDD is a congenital/early-onset multisystem disorder involving craniofacial, ocular, dental, and limb development with variable neurologic involvement. A defining description in the recent dental literature is that: “ODDD is an autosomal dominant genetic disorder, which is characterized by abnormal ocular, dental, and digital findings. It is caused by a mutation in GJA1 gene encoding Cx43.” (BDJ Open, 2023) (hindu2023oculodentodigitaldysplasiaa pages 8-8).

A foundational genetics paper identified ODDD as a highly penetrant autosomal dominant disorder and reported the synonym “oculodentoosseous dysplasia”. (paznekas2003connexin43(gja1) pages 1-3)

1.2 Key identifiers (from retrieved evidence)

1.3 Synonyms/alternative names

1.4 Evidence source types in this report

2. Etiology

2.1 Primary causal factors

Genetic: Pathogenic variants in GJA1 (connexin 43) are the established primary cause of ODDD. In a 17-family cohort, investigators reported: “we found mutations in 100% of the individuals studied who were affected with ODDD.” (AJHG, 2003; DOI: https://doi.org/10.1086/346090) (paznekas2003connexin43(gja1) pages 3-4).

2.2 Risk factors

Environmental risk factors: not identified in retrieved evidence (ODDD is primarily Mendelian).

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved evidence.

2.4 Gene–environment interactions

Not identified in retrieved evidence.

3. Phenotypes (clinical features)

ODDD shows high variability (variable expressivity; some features absent in subsets of families), but commonly involves multiple systems.

3.1 Core craniofacial/face phenotype

Suggested HPO terms (non-exhaustive): - Narrow nose (HP:0003196) - Hypoplastic alae nasi (HP:0000430) - Prominent columella (HP:0009924)

3.2 Ocular phenotypes

Frequency/statistics: - In the 54-family synthesis: ocular (microphthalmia and/or microcornea) in 68% of families; among 177 individuals, microphthalmia 22% and microcornea 27%. (paznekas2009gja1mutationsvariants pages 5-6) - In an ocular-focused review of 295 reported cases: the most common eye findings across mutations were microcornea (n=111), microphthalmia (n=110), short palpebral fissures (n=56), and glaucoma (n=51). (Kumar 2020; published Apr 2020; DOI: https://doi.org/10.1155/2020/6535974) (kumar2020oculodentodigitaldysplasiaa pages 2-3)

Suggested HPO terms: - Microcornea (HP:0000482) - Microphthalmia (HP:0000568) - Short palpebral fissures (HP:0012745) - Glaucoma (HP:0000501)

QoL impact: glaucoma may cause severe visual impairment/blindness in a subset (glaucoma-related blindness noted in several individuals). (paznekas2009gja1mutationsvariants pages 5-6)

3.3 Dental/oral phenotypes

Frequency/statistics: - In the 54-family synthesis: dental anomalies present in 70% of families; among 177 individuals enamel hypoplasia 40% and microdontia 21%. (paznekas2009gja1mutationsvariants pages 5-6) - A 2023 dental systematic analysis summarized “common dental findings” including enamel hypoplasia/hypomineralization, microdontia, pulp stones, curved roots, and taurodontism and reports pooled frequencies from prior literature such as hypoplastic enamel ~40% and microdontia 21%. (Hindu & Umer 2023; BDJ Open; DOI: https://doi.org/10.1038/s41405-023-00139-7) (hindu2023oculodentodigitaldysplasiaa pages 1-3)

Suggested HPO terms: - Enamel hypoplasia (HP:0006297) - Microdontia (HP:0000691) - Hypodontia (HP:0000668) - Pulp stones (HP:0000706) (term availability may vary; include as dental pulp calcification) - Taurodontia (HP:0000679) - Dental caries (HP:0000670)

QoL impact: tooth pain, pulpitis, abscesses, and early tooth loss affect mastication and psychosocial well-being; dental care aims explicitly include maintaining function and esthetics. (hindu2023oculodentodigitaldysplasiaa pages 8-9)

3.4 Digital/limb phenotypes

Frequency/statistics: - In the 54-family synthesis: digital (syndactyly of 4th/5th fingers) present in 80% of families and 72% of 177 individuals, with 43% showing bilateral 4–5 syndactyly. (paznekas2009gja1mutationsvariants pages 5-6)

Suggested HPO terms: - 4-5 finger syndactyly (HP:0006101) - Syndactyly (HP:0001159) - Camptodactyly (HP:0012385) - Clinodactyly (HP:0030084)

3.5 Neurologic/CNS phenotypes

Neurologic manifestations are prominent in a subset and may emerge later (often adolescence/adulthood in spastic paraplegia presentations).

Suggested HPO terms: - Spastic paraplegia (HP:0001258) - Hyperreflexia (HP:0001347) - Seizures (HP:0001250) - Hypomyelination (HP:0003429) - Neurogenic bladder (HP:0000011)

4. Genetic / molecular information

4.1 Causal gene(s)

4.2 Pathogenic variant spectrum (high-level)

Variant classes and functional consequences: - Missense variants dominate reported disease-causing changes; additional frameshift/truncating variants are rarer. (choi2018oculodentodigitaldysplasiawith pages 4-5) - Functional effects are heterogeneous and can include reduced junctional conductance, altered localization/trafficking, dominant-negative effects, and altered hemichannel vs gap junction behavior. (paznekas2009gja1mutationsvariants pages 7-8, flenniken2005agja1missense pages 9-10)

Somatic vs germline: - Most reported ODDD is germline heterozygous; mosaic pathogenic variants can cause atypical/severe neurodevelopmental phenotypes. (shimomura2024raremosaicvariant pages 1-2)

Population frequency: - A C-terminal variant A253V was noted as present at ~1–2% in Europeans in the 2009 discussion, illustrating that not all protein-altering variants are necessarily pathogenic. (paznekas2009gja1mutationsvariants pages 4-5)

4.3 Modifier genes / genetic modifiers

Direct modifier genes are not established in the retrieved evidence, but the 2009 synthesis emphasizes that variability may reflect regulatory/noncoding variation and modifier effects; it discusses SNPs and possible modifying alleles. (paznekas2009gja1mutationsvariants pages 7-8)

4.4 Epigenetics / chromosomal abnormalities

Not identified in retrieved evidence.

5. Environmental information

No specific environmental, lifestyle, or infectious contributors were identified in the retrieved evidence; ODDD is primarily a Mendelian disorder driven by GJA1 variants. (paznekas2003connexin43(gja1) pages 1-3, paznekas2009gja1mutationsvariants pages 5-6)

6. Mechanism / pathophysiology

6.1 Key concept definitions (current understanding)

  • Gap junction channel: intercellular channel formed by docking of two connexin hemichannels, enabling direct diffusion of ions and small metabolites.
  • Hemichannel: undocked connexin hexamer at the plasma membrane that can open under pathological conditions and allow solute exchange with extracellular space.

ODDD is best conceptualized as a Cx43 connexinopathy/channelopathy in which tissue-specific disruption of gap junctional intercellular communication (and/or aberrant hemichannel activity) perturbs development and maintenance of ocular structures, dentition, digits, and sometimes CNS myelin/basal ganglia integrity. (bock2013neurologicalmanifestationsof pages 1-2, flenniken2005agja1missense pages 9-10)

6.2 Causal chain (representative, multi-tissue)

  1. Trigger: germline (or mosaic) pathogenic variant in GJA1 → mutant Cx43 protein. (paznekas2003connexin43(gja1) pages 3-4, shimomura2024raremosaicvariant pages 1-2)
  2. Molecular dysfunction: altered Cx43 assembly/trafficking/docking and reduced or abnormal permeability of gap junction channels; some mutants act dominant-negative, reducing functional channel formation below haploinsufficiency expectations. (flenniken2005agja1missense pages 9-10, tong2009oogenesisdefectsin pages 1-2)
  3. Cellular consequence: impaired intercellular coupling and altered signaling homeostasis in critical developmental cell populations (e.g., craniofacial mesenchyme, odontogenic tissues, ocular anterior segment tissues; astrocyte networks and astrocyte–oligodendrocyte coupling in CNS). (bock2013neurologicalmanifestationsof pages 1-2, saintval2019gja1variantscause pages 2-4)
  4. Tissue/organ pathology: developmental anomalies (microcornea/microphthalmia; enamel hypoplasia; syndactyly) and in some individuals progressive neurologic involvement with spastic paraplegia and imaging patterns of hypomyelination and basal ganglia abnormalities. (paznekas2009gja1mutationsvariants pages 5-6, saintval2019gja1variantscause pages 2-4)

6.3 CNS-specific mechanistic interpretation

Cx43 is emphasized as an astrocytic gap junction protein involved in coordinated Ca2+ waves, K+ buffering, and glucose distribution; hemichannels can release signaling molecules and contribute to neuroglial inflammation. A mechanistic review frames ODDD neurologic disease as potentially arising from altered Cx43 gap junction/hemichannel function in glia, though links from specific channel defects to symptoms remain incompletely resolved. (bock2013neurologicalmanifestationsof pages 1-2)

6.4 Recent developments (2023–2024): structural and mechanistic advances

High-resolution Cx43 structure (2023): A major advance was the cryo-EM structure of human Cx43 gap junction channels at 2.26 Å, capturing a putative closed state, revealing lipid-like densities in the pore and a cytosolic gating conformation involving the N-terminal domain and TM2. (Qi et al., eLife, Aug 2023; DOI: https://doi.org/10.7554/elife.87616.3) (qi2023structureofthe pages 1-2, qi2023structureofthe pages 2-4)

This structural work explicitly maps ODDD-linked mutations and suggests lipid binding may influence gating: “binding of a lipid could directly influence the conformation of the gating elements of the protein (such as NTD)” and notes ODDD mutations in the extracellular domain. (qi2023structureofthe pages 9-11)

Therapeutic targeting concept (2023): In cardiovascular contexts, selective inhibition of Cx43 hemichannels without blocking gap junctions (e.g., Gap19 peptide) is discussed as enabling a “double-edged” approach: preventing pathological hemichannel opening while preserving gap junctional function—conceptually relevant for connexinopathies even though disease-specific evidence in ODDD remains limited. (Leybaert et al., JCI, Mar 2023; DOI: https://doi.org/10.1172/jci168117) (leybaert2023connexinhemichannelsas pages 1-2)

Phenotypic expansion / mosaicism (2024): Mosaic de novo GJA1 variants can yield disproportionate CNS involvement (seizures, delayed myelination) with only mild limb features, suggesting tissue mosaic ratios can shape phenotype severity. (shimomura2024raremosaicvariant pages 1-2)

6.5 Suggested ontology terms for mechanisms

GO Biological Process (suggestions): - Gap junction assembly (GO:1902723) - Cell–cell communication (GO:0007154) - Regulation of membrane permeability (GO:0043269) - Myelination (GO:0042552)

CL cell types (suggestions): - Astrocyte (CL:0000127) (supported mechanistically by astroglial Cx43 emphasis) (bock2013neurologicalmanifestationsof pages 1-2) - Oligodendrocyte (CL:0000128) (astrocyte–oligodendrocyte coupling implicated in hypomyelination) (saintval2019gja1variantscause pages 2-4) - Odontoblast (CL:0000031) / ameloblast (CL:0000138) (as relevant dental cell types; direct evidence not detailed in retrieved texts)

7. Anatomical structures affected

7.1 Organ level / systems

Primary systems repeatedly affected include: - Eye/anterior segment and globe development (microcornea, microphthalmia, glaucoma). (kumar2020oculodentodigitaldysplasiaa pages 2-3, paznekas2009gja1mutationsvariants pages 5-6) - Teeth and oral cavity (enamel hypoplasia, microdontia, caries, taurodontism). (hindu2023oculodentodigitaldysplasiaa pages 1-3) - Hands/feet digits (4–5 syndactyly). (paznekas2009gja1mutationsvariants pages 5-6) - CNS white matter and basal ganglia in neurologically affected patients (hypomyelination; calcifications). (saintval2019gja1variantscause pages 2-4, shimomura2024raremosaicvariant pages 1-2)

Suggested UBERON terms (examples): - Eye (UBERON:0000970) - Tooth (UBERON:0001091) - Hand (UBERON:0002389) / digit (UBERON:0002544) - Cerebral white matter (UBERON:0002312) - Basal ganglion (UBERON:0002435)

8. Temporal development

8.1 Onset

8.2 Progression

9. Inheritance and population

9.1 Inheritance

9.2 Penetrance / expressivity

9.3 Epidemiology

10. Diagnostics

10.1 Clinical recognition

Diagnosis is typically suspected based on the combined ocular–dental–digital phenotype and characteristic facial features and/or neurologic features. (paznekas2009gja1mutationsvariants pages 5-6, kumar2020oculodentodigitaldysplasiaa pages 1-2)

10.2 Genetic testing (current real-world implementation)

  • Single-gene testing / targeted sequencing of GJA1 is a common confirmatory approach; an ocular case report used targeted sequencing of GJA1 plus array CGH to assess copy-number changes. (kumar2020oculodentodigitaldysplasiaa pages 1-2)
  • Targeted gene panels are useful when differential diagnoses are broad; authors emphasize that “targeted gene panel sequencing” can assist in differentiating ODDD from overlapping syndromes with similar craniofacial/dental features. (choi2018oculodentodigitaldysplasiawith pages 5-6)

10.3 Differential diagnosis

Differential diagnoses noted in the clinical genetics/dental literature include amelogenesis imperfecta, oral-facial-digital syndrome, Hallermann–Streiff syndrome, and Saethre–Chotzen syndrome; the presence of syndactyly and typical facial gestalt can support ODDD. (choi2018oculodentodigitaldysplasiawith pages 4-5, hindu2023oculodentodigitaldysplasiaa pages 8-8)

10.4 Biomarkers / imaging

No validated circulating biomarkers were identified in the retrieved evidence; imaging is relevant mainly for ocular evaluation (glaucoma/anterior segment) and for neurologic phenotypes where MRI can show hypomyelination and basal ganglia signal changes/calcifications. (saintval2019gja1variantscause pages 2-4, shimomura2024raremosaicvariant pages 1-2)

11. Outcome / prognosis

Evidence in the retrieved set suggests prognosis is dominated by: - Visual outcomes (risk of glaucoma and potential blindness in a minority) (paznekas2009gja1mutationsvariants pages 5-6) - Dental morbidity (caries, tooth wear, abscesses; need for lifelong preventive care) (hindu2023oculodentodigitaldysplasiaa pages 8-9) - Neurologic disability (variable severity; spastic paraplegia disability staging reported in neurologic series) (saintval2019gja1variantscause pages 2-4)

Quantitative survival/life expectancy data were not identified in the retrieved evidence.

12. Treatment

No disease-modifying pharmacotherapy is established for ODDD in the retrieved evidence; management is multidisciplinary and supportive.

12.1 Dental management (real-world implementation)

Dental care recommendations from a 2023 systematic analysis emphasize immediate treatment of active oral disease and longer-term prevention of tooth wear and maintenance of occlusion. (hindu2023oculodentodigitaldysplasiaa pages 1-3)

Specific interventions compiled from published cases include: - Sealants and early restoration of caries; avoidance of extractions when possible to preserve alveolar bone. (hindu2023oculodentodigitaldysplasiaa pages 8-9) - Endodontic treatments (pulpotomy/pulpectomy, root canal therapy, apexification) and full-coverage restorations where needed. (hindu2023oculodentodigitaldysplasiaa pages 7-8) - Regular surveillance every ~3 months in some reported dental protocols. (hindu2023oculodentodigitaldysplasiaa pages 7-8)

Suggested MAXO terms (examples): - Dental restoration procedure (MAXO:0000900) (term may vary) - Pit and fissure sealant application (MAXO:0000526) (term may vary) - Endodontic therapy (MAXO:0000104) (term may vary)

12.2 Ophthalmic care

Given high frequency of microcornea/microphthalmia and non-trivial glaucoma burden, ophthalmic monitoring and glaucoma management are key practical interventions (treatment details not elaborated in retrieved excerpts). (kumar2020oculodentodigitaldysplasiaa pages 2-3)

12.3 Neurologic symptomatic care

Neurologic manifestations (e.g., spasticity, seizures) are treated symptomatically in practice; disease-specific controlled evidence was not identified in the retrieved corpus. (shimomura2024raremosaicvariant pages 1-2)

12.4 Experimental / emerging approaches

Targeted modulation of Cx43 hemichannel activity (e.g., selective inhibitors that spare gap junctions) is an active area in other diseases and provides a mechanistic rationale for future connexin-based therapies, but ODDD-specific clinical trials were not identified in the clinical-trial search results for this run. (leybaert2023connexinhemichannelsas pages 1-2)

13. Prevention

Primary prevention is not applicable in the classic public-health sense for a Mendelian disorder; prevention focuses on reproductive and familial risk management.

  • Genetic counseling and cascade testing are strongly implied by the predominance of autosomal dominant inheritance and frequent de novo cases, but explicit guideline statements were not retrieved in this run. (paznekas2009gja1mutationsvariants pages 5-6)

14. Other species / natural disease

No naturally occurring (non-model) animal disease analogs were identified in the retrieved evidence.

15. Model organisms

15.1 Mouse models (key resources)

Multiple mouse models recapitulate core ODDD features and are widely used for mechanistic work: - Gja1Jrt/+ (Cx43 G60S) ENU-derived dominant model recapitulating syndactyly, enamel hypoplasia, craniofacial dysmorphology, ocular anomalies, and cardiac conduction abnormalities; evidence supports a dominant-negative mechanism and reduced Cx43 plaques/levels. (Flenniken 2005; Development; DOI: https://doi.org/10.1242/dev.02011) (flenniken2005agja1missense pages 4-5, flenniken2005agja1missense pages 9-10) - Knock-in models (I130T, G138R) recapitulate ODDD-like traits; reproductive and cardiac phenotypes and prenatal death effects are reported across strains. (tong2009oogenesisdefectsin pages 7-8) - Cx43 knockout (Gja1−/−) demonstrates severe developmental and reproductive defects, emphasizing the essential role of Cx43-mediated coupling. (tong2009oogenesisdefectsin pages 1-2)

15.2 Phenotype recapitulation and limitations

The Jrt/+ model reproduces many canonical traits but does not capture all variably penetrant human symptoms, highlighting allele- and tissue-specific differences. (flenniken2005agja1missense pages 10-11)

Key resource artifact

Table (click to expand)
Disease name Abbreviation MONDO ID OMIM/MIM Common synonyms Causal gene Inheritance Key references (year; DOI/URL) Evidence
Oculodentodigital dysplasia ODDD MONDO_0008111 OMIM/MIM #164200 oculo-dento-digital dysplasia; oculo-dento-digital syndrome; oculodentoosseous dysplasia GJA1 (connexin 43, Cx43) Mostly autosomal dominant; rare autosomal recessive cases reported Paznekas et al., 2003; https://doi.org/10.1086/346090 • Paznekas et al., 2009; https://doi.org/10.1002/humu.20958 • Kumar et al., 2020; https://doi.org/10.1155/2020/6535974 • Hindu & Umer, 2023; https://doi.org/10.1038/s41405-023-00139-7 (paznekas2003connexin43(gja1) pages 1-3, paznekas2009gja1mutationsvariants pages 5-6, kumar2020oculodentodigitaldysplasiaa pages 1-2, hindu2023oculodentodigitaldysplasiaa pages 8-8)
Standard ontology/classification note — MONDO_0008111 #164200 not found in retrieved sources beyond above synonyms GJA1 Autosomal dominant form most frequently reported Open Targets disease-target association lists oculodentodigital dysplasia under MONDO_0008111 and associates GJA1 (kumar2020oculodentodigitaldysplasiaa pages 1-2)
Other identifiers — not found in retrieved sources not found beyond OMIM/MIM #164200 not found in retrieved sources not found beyond GJA1/Cx43 not found beyond AD/rare AR Orphanet, MeSH, ICD-10/ICD-11 were not explicitly retrieved in the gathered evidence (paznekas2003connexin43(gja1) pages 1-3, kumar2020oculodentodigitaldysplasiaa pages 1-2, hindu2023oculodentodigitaldysplasiaa pages 8-8)

Table: This table summarizes the core disease naming and identifier information retrieved for oculodentodigital dysplasia, including supported ontology IDs, synonyms, causal gene, inheritance, and anchor references. It is useful as a compact normalization artifact for a disease knowledge base entry.

Notes on evidence gaps (important for knowledge-base curation)

  • Orphanet ID, MeSH ID, ICD-10/ICD-11 codes were not present in the retrieved evidence for this run and should be added from OMIM/Orphanet/MeSH lookups in a subsequent curation step.
  • Quantitative survival/life expectancy and formal clinical diagnostic criteria/guidelines were not retrieved.
  • ODDD-specific clinical trials and disease-modifying therapies were not identified in the clinical trial search results for this run.

References

  1. (hindu2023oculodentodigitaldysplasiaa pages 8-8): Karshma Devi Hindu and Fahad Umer. Oculo-dento-digital dysplasia: a systematic analysis of published dental literature. BDJ Open, Mar 2023. URL: https://doi.org/10.1038/s41405-023-00139-7, doi:10.1038/s41405-023-00139-7. This article has 3 citations and is from a peer-reviewed journal.

  2. (paznekas2003connexin43(gja1) pages 1-3): William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniels, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, and Ethylin Wang Jabs. Connexin 43 (gja1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. American journal of human genetics, 72 2:408-18, Feb 2003. URL: https://doi.org/10.1086/346090, doi:10.1086/346090. This article has 756 citations and is from a highest quality peer-reviewed journal.

  3. (paznekas2009gja1mutationsvariants pages 5-6): William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann N. Bodurtha, and Ethylin Wang Jabs. Gja1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation, 30:724-733, May 2009. URL: https://doi.org/10.1002/humu.20958, doi:10.1002/humu.20958. This article has 312 citations and is from a domain leading peer-reviewed journal.

  4. (qi2023structureofthe pages 1-2): Chao Qi, Silvia Acosta Gutierrez, Pia Lavriha, Alaa Othman, Diego Lopez-Pigozzi, Erva Bayraktar, Dina Schuster, Paola Picotti, Nicola Zamboni, Mario Bortolozzi, Francesco Luigi Gervasio, and Volodymyr M Korkhov. Structure of the connexin-43 gap junction channel in a putative closed state. eLife, Aug 2023. URL: https://doi.org/10.7554/elife.87616.3, doi:10.7554/elife.87616.3. This article has 44 citations and is from a domain leading peer-reviewed journal.

  5. (shimomura2024raremosaicvariant pages 1-2): Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, and Toshiyuki Yamamoto. Rare mosaic variant of gja1 in a patient with a neurodevelopmental disorder. Human Genome Variation, Jan 2024. URL: https://doi.org/10.1038/s41439-023-00262-9, doi:10.1038/s41439-023-00262-9. This article has 3 citations.

  6. (kumar2020oculodentodigitaldysplasiaa pages 1-2): Virang Kumar, Natario L. Couser, and Arti Pandya. Oculodentodigital dysplasia: a case report and major review of the eye and ocular adnexa features of 295 reported cases. Case Reports in Ophthalmological Medicine, 2020:1-16, Apr 2020. URL: https://doi.org/10.1155/2020/6535974, doi:10.1155/2020/6535974. This article has 12 citations.

  7. (saintval2019gja1variantscause pages 2-4): L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, and F. Mochel. Gja1 variants cause spastic paraplegia associated with cerebral hypomyelination. American Journal of Neuroradiology, 40:788-791, Apr 2019. URL: https://doi.org/10.3174/ajnr.a6036, doi:10.3174/ajnr.a6036. This article has 8 citations and is from a peer-reviewed journal.

  8. (kumar2020oculodentodigitaldysplasiaa pages 2-3): Virang Kumar, Natario L. Couser, and Arti Pandya. Oculodentodigital dysplasia: a case report and major review of the eye and ocular adnexa features of 295 reported cases. Case Reports in Ophthalmological Medicine, 2020:1-16, Apr 2020. URL: https://doi.org/10.1155/2020/6535974, doi:10.1155/2020/6535974. This article has 12 citations.

  9. (hindu2023oculodentodigitaldysplasiaa pages 1-3): Karshma Devi Hindu and Fahad Umer. Oculo-dento-digital dysplasia: a systematic analysis of published dental literature. BDJ Open, Mar 2023. URL: https://doi.org/10.1038/s41405-023-00139-7, doi:10.1038/s41405-023-00139-7. This article has 3 citations and is from a peer-reviewed journal.

  10. (flenniken2005agja1missense pages 4-5): Ann M. Flenniken, Lucy R. Osborne, Nicole Anderson, Nadia Ciliberti, Craig Fleming, Joanne E. I. Gittens, Xiang-Qun Gong, Lois B. Kelsey, Crystal Lounsbury, Luisa Moreno, Brian J. Nieman, Katie Peterson, Dawei Qu, Wendi Roscoe, Qing Shao, Dan Tong, Gregory I. L. Veitch, Irina Voronina, Igor Vukobradovic, Geoffrey A. Wood, Yonghong Zhu, Ralph A. Zirngibl, Jane E. Aubin, Donglin Bai, Benoit G. Bruneau, Marc Grynpas, Janet E. Henderson, R. Mark Henkelman, Colin McKerlie, John G. Sled, William L. Stanford, Dale W. Laird, Gerald M. Kidder, S. Lee Adamson, and Janet Rossant. A gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Development, 132:4375-4386, Oct 2005. URL: https://doi.org/10.1242/dev.02011, doi:10.1242/dev.02011. This article has 275 citations and is from a domain leading peer-reviewed journal.

  11. (tong2009oogenesisdefectsin pages 1-2): Dan Tong, Deanne Colley, Renee Thoo, Tony Y. Li, Isabelle Plante, Dale W. Laird, Donglin Bai, and Gerald M. Kidder. Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. Disease Models & Mechanisms, 2:157-167, Mar 2009. URL: https://doi.org/10.1242/dmm.000935, doi:10.1242/dmm.000935. This article has 22 citations and is from a domain leading peer-reviewed journal.

  12. (leybaert2023connexinhemichannelsas pages 1-2): Luc Leybaert, Maarten A.J. De Smet, Alessio Lissoni, Rosalie Allewaert, H. Llewelyn Roderick, Geert Bultynck, Mario Delmar, Karin R. Sipido, and Katja Witschas. Connexin hemichannels as candidate targets for cardioprotective and anti-arrhythmic treatments. The Journal of Clinical Investigation, Mar 2023. URL: https://doi.org/10.1172/jci168117, doi:10.1172/jci168117. This article has 54 citations.

  13. (paznekas2003connexin43(gja1) pages 3-4): William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniels, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, and Ethylin Wang Jabs. Connexin 43 (gja1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. American journal of human genetics, 72 2:408-18, Feb 2003. URL: https://doi.org/10.1086/346090, doi:10.1086/346090. This article has 756 citations and is from a highest quality peer-reviewed journal.

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  22. (saintval2019gja1variantscause pages 1-2): L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, and F. Mochel. Gja1 variants cause spastic paraplegia associated with cerebral hypomyelination. American Journal of Neuroradiology, 40:788-791, Apr 2019. URL: https://doi.org/10.3174/ajnr.a6036, doi:10.3174/ajnr.a6036. This article has 8 citations and is from a peer-reviewed journal.

  23. (park2017oculodentodigitaldysplasiapresenting pages 3-4): Kye Won Park, Ho-Sung Ryu, Juyeon Kim, and Sun Ju Chung. Oculodentodigital dysplasia presenting as spastic paraparesis: the first genetically confirmed korean case and a literature review. Journal of Movement Disorders, 10:149-153, Sep 2017. URL: https://doi.org/10.14802/jmd.17050, doi:10.14802/jmd.17050. This article has 10 citations and is from a peer-reviewed journal.

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  25. (hindu2023oculodentodigitaldysplasiaa pages 7-8): Karshma Devi Hindu and Fahad Umer. Oculo-dento-digital dysplasia: a systematic analysis of published dental literature. BDJ Open, Mar 2023. URL: https://doi.org/10.1038/s41405-023-00139-7, doi:10.1038/s41405-023-00139-7. This article has 3 citations and is from a peer-reviewed journal.

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