Autosomal Dominant Osteopetrosis Type II (ADO2) — Comprehensive Disease Characteristics Report

Target Disease

• Disease name: Autosomal Dominant Osteopetrosis Type II (ADO2)
• Category: Mendelian (autosomal dominant)
• MONDO ID: MONDO:0008156 (“autosomal dominant osteopetrosis 2”) (OpenTargets Search: autosomal dominant osteopetrosis type II,Albers-Schönberg disease-CLCN7)

1. Disease Information

1.1 Definition / overview

Autosomal dominant osteopetrosis type II (ADO2) is a rare high–bone-mass skeletal disorder caused by impaired osteoclast-mediated bone resorption, leading to radiographically dense but mechanically fragile bone with frequent fractures and characteristic imaging findings (e.g., “sandwich vertebrae” and “bone-in-bone”). It is also referred to as Albers–Schönberg disease and is described as the commonest adult form of osteopetrosis (funckbrentanoUnknownyearppelmandikstranm pages 1-3, funckbrentanoUnknownyearppelmandikstranm pages 3-4, kang2019acaseof pages 1-3).

Current understanding (key concept): Osteopetrosis represents a group of disorders in which osteoclast formation/function is impaired, resulting in increased bone mass but compromised bone quality, with downstream complications including fractures, cranial nerve compression, and (less commonly in ADO2) marrow compromise (funckbrentanoUnknownyearppelmandikstranm pages 1-3, nadyrshina2023clinicalgeneticaspects pages 2-3).

1.2 Key identifiers

• OMIM/MIM: MIM 166600 (ADO2) (wang2022naturalhistoryof pages 1-2)
• MONDO: MONDO:0008156 (OpenTargets Search: autosomal dominant osteopetrosis type II,Albers-Schönberg disease-CLCN7)
• ICD-10: Osteopetrosis is listed as ICD-10-78.2 in a 2023 review (note: this is for osteopetrosis as a category; ADO2-specific ICD granularity was not captured in retrieved evidence) (nadyrshina2023clinicalgeneticaspects pages 1-2)
• Orphanet / MeSH / ICD-11: Not available in the retrieved full-text evidence set; should be filled from Orphanet/MeSH/ICD-11 directly.

1.3 Common synonyms / alternative names

• Autosomal dominant osteopetrosis type II
• ADO II / ADO2
• Albers–Schönberg disease (funckbrentanoUnknownyearppelmandikstranm pages 1-3, kang2019acaseof pages 1-3)

1.4 Source type of information

This report integrates: - Aggregated resources and expert reviews (2023–2024) (funckbrentanoUnknownyearppelmandikstranm pages 1-3, nadyrshina2023clinicalgeneticaspects pages 1-2, ma2023molecularmechanismsof pages 2-4) - Human cohort / natural history studies (2022; plus a later natural-history biomarker report) (wang2022naturalhistoryof pages 1-2, wang2022naturalhistoryof pages 8-9, econs2026fracturesarehighly pages 1-3) - Case reports (illustrating variable expressivity and reduced penetrance) (kang2019acaseof pages 1-3) - Model organism and mechanistic synthesis (mouse models; craniofacial/dental mechanisms) (ma2023molecularmechanismsof pages 2-4, ma2023molecularmechanismsof pages 8-10)

2. Etiology

2.1 Disease causal factors

Primary cause: germline heterozygous pathogenic variants in CLCN7 (Cl−/H+ antiporter 7; historically described as a “chloride channel”), causing osteoclast dysfunction with impaired resorption lacuna acidification (wang2022naturalhistoryof pages 1-2, funckbrentanoUnknownyearppelmandikstranm pages 1-3, funckbrentanoUnknownyearppelmandikstranm pages 3-4). A 2024 adult osteopetrosis review notes that “more than 34 CLCN7 mutations have been reported” in ADO (funckbrentanoUnknownyearppelmandikstranm pages 1-3).

Key mechanistic etiologic statement (quoted): “Mutation in CLCN7 may disrupt acidification of the osteoclast resorption lacunae, resulting in impaired bone degradation” (ADO II, MIM166600) (wang2022naturalhistoryof pages 1-2).

Additional required component: The OSTM1 subunit is described as required for ClC-7/CLCN7 trafficking to the osteoclast ruffled border (funckbrentanoUnknownyearppelmandikstranm pages 1-3, funckbrentanoUnknownyearppelmandikstranm pages 3-4).

2.2 Risk factors

• Genetic: carrying a pathogenic CLCN7 variant is the principal risk factor (Mendelian causal). Penetrance is incomplete and expressivity is variable (funckbrentanoUnknownyearppelmandikstranm pages 3-4, econs2026fracturesarehighly pages 1-3).
• Non-genetic/environmental: The retrieved evidence did not identify consistent environmental risk factors for ADO2 onset; clinical risk is dominated by genotype.

2.3 Protective factors

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

2.4 Gene–environment interactions

No specific gene–environment interactions were identified in the retrieved evidence.

3. Phenotypes

3.1 Core clinical phenotypes (with characteristics)

Skeletal fragility/fracture (symptom/sign): - Fracture is a defining complication despite very high BMD (funckbrentanoUnknownyearppelmandikstranm pages 3-4, wang2022naturalhistoryof pages 8-9). - In a Chinese cohort (n=36), fracture frequency was 55.6% (20/36) (wang2022naturalhistoryof pages 8-9). - A 2024 review summarizes fractures in ~46% of patients and notes delayed healing (funckbrentanoUnknownyearppelmandikstranm pages 3-4). - Fracture risk is not reliably predicted by BMD in at least one follow-up subset: BMD stable over ~6 years, yet 5/15 sustained new fractures (funckbrentanoUnknownyearppelmandikstranm pages 3-4, wang2022naturalhistoryof pages 5-6).

Delayed fracture healing (clinical course): - Fractures may show delayed consolidation, sometimes “months to years” per adult osteopetrosis review (funckbrentanoUnknownyearppelmandikstranm pages 3-4).

Osteomyelitis (especially mandibular) / dental infection: - Mandibular osteomyelitis is highlighted as a difficult complication requiring prolonged treatment (funckbrentanoUnknownyearppelmandikstranma pages 4-5).

Cranial nerve compression / skull-base complications: - Vision loss, hearing loss, and facial palsy can occur from skull base sclerosis and foraminal narrowing (wang2022naturalhistoryof pages 8-9, funckbrentanoUnknownyearppelmandikstranma pages 4-5, nadyrshina2023clinicalgeneticaspects pages 2-3). - In the Chinese cohort, visual loss was 1/36 and bone marrow failure 2/36 (wang2022naturalhistoryof pages 1-2).

Degenerative joint disease / hip osteoarthritis: - Hip osteoarthritis and joint discomfort are reported clinical characteristics (wang2022naturalhistoryof pages 1-2, wang2022naturalhistoryof pages 5-6).

Hematologic features (less common in ADO2): - Reduced marrow space can contribute to anemia/hepatosplenomegaly in osteopetrosis broadly; adult ADO2 marrow failure is noted as uncommon but possible (funckbrentanoUnknownyearppelmandikstranm pages 3-4, nadyrshina2023clinicalgeneticaspects pages 2-3).

3.2 Craniofacial and dental phenotypes (2023 synthesis)

A 2023 craniofacial/dental review explicitly catalogs craniofacial and dental abnormalities across osteopetrosis subtypes and includes ADO2/OPTA2 (OMIM #166600). It emphasizes that ion channels/transporters including TCIRG1, CLCN7, OSTM1, SLC4A2 “may control osteoclastic acidification” (ma2023molecularmechanismsof pages 1-2). It also recommends dental attention to prevent missed diagnoses: “It is recommended that dentists pay attention to the craniofacial condition of osteopetrosis patients to reduce missed diagnoses” (ma2023molecularmechanismsof pages 12-13).

3.3 Suggested HPO terms (non-exhaustive)

(IDs should be verified against current HPO release during KB ingestion.) - Increased bone mineral density / osteosclerosis (e.g., Osteosclerosis) - Pathologic fracture / recurrent fractures - Delayed fracture healing - Osteomyelitis of the jaw / mandibular osteomyelitis - Visual impairment / optic atrophy (optic canal narrowing mechanism noted) (wang2022naturalhistoryof pages 8-9) - Hearing impairment - Facial palsy - Dental anomalies: delayed tooth eruption, hypodontia/dental agenesis, caries, malocclusion (funckbrentanoUnknownyearppelmandikstranma pages 4-5, ma2023molecularmechanismsof pages 8-10)

3.4 Quality of life impacts

Direct QoL instrument data (e.g., SF-36, PROMIS) were not present in the retrieved evidence set; however, fracture burden, chronic osteomyelitis, and sensory impairment are expected to be major drivers of disability (funckbrentanoUnknownyearppelmandikstranm pages 1-3, funckbrentanoUnknownyearppelmandikstranm pages 3-4).

4. Genetic / Molecular Information

4.1 Causal gene(s)

• CLCN7 (Cl−/H+ antiporter 7) is the principal ADO2 gene (funckbrentanoUnknownyearppelmandikstranm pages 1-3, wang2022naturalhistoryof pages 1-2, OpenTargets Search: autosomal dominant osteopetrosis type II,Albers-Schönberg disease-CLCN7).

4.2 Pathogenic variants and genotype–phenotype

Variant spectrum and frequencies (cohort-level): In a single-center Chinese cohort (n=36), 21 disease-causing CLCN7 mutations were detected (wang2022naturalhistoryof pages 5-6). - c.2299C>T (p.Arg767Trp): 16.2% - c.296A>G (p.Tyr99Cys): 10.8% - c.857G>A (p.Arg286Gln): 10.8% - c.937G>A (p.Glu313Lys): 8.1% (wang2022naturalhistoryof pages 5-6, wang2022naturalhistoryof pages 8-9)

Reported genotype–phenotype link (example): c.937G>A (p.Glu313Lys) was associated with “severe fractures, haematological defects and cranial palsy” in this cohort (wang2022naturalhistoryof pages 1-2).

Penetrance / expressivity: - Incomplete penetrance (~66% symptomatic carriers) (funckbrentanoUnknownyearppelmandikstranm pages 3-4, funckbrentanoUnknownyearppelmandikstranm pages 1-3) - Penetrance estimate 69.23% in one cohort (wang2022naturalhistoryof pages 2-3) - Familial penetrance reported range 60–90% in a case report review (kang2019acaseof pages 1-3)

Expert interpretation: A later natural-history biomarker study emphasizes marked intrafamilial variability and reports no significant phenotype differences between the most common variant in that cohort (G215R) vs other variants across fracture/BMD/biochemical markers (econs2026fracturesarehighly pages 1-3).

4.3 Modifier genes / protective variants

No validated modifier genes or protective variants specific to ADO2 were identified in the retrieved evidence.

4.4 Epigenetics / chromosomal abnormalities

Not identified for ADO2 in the retrieved evidence.

5. Environmental Information

No disease-specific environmental, lifestyle, or infectious triggers were identified in the retrieved evidence set. Clinical risks in ADO2 are primarily genetically determined.

6. Mechanism / Pathophysiology

6.1 Causal chain (genotype → cellular defect → clinical manifestations)

1. Trigger: Germline heterozygous CLCN7 pathogenic variant (wang2022naturalhistoryof pages 1-2).
2. Upstream cellular mechanism: Disruption of osteoclast acidification/resorption lacuna function; impaired ruffled border function/trafficking (including requirement for OSTM1) (funckbrentanoUnknownyearppelmandikstranm pages 3-4, funckbrentanoUnknownyearppelmandikstranm pages 1-3).
3. Tissue-level consequences: Failure to resorb mineralized bone and calcified cartilage → osteosclerosis/high bone mass with abnormal microarchitecture (“bone islets”; persistent calcified cartilage as a hallmark of osteoclast failure) (funckbrentanoUnknownyearppelmandikstranm pages 4-5, funckbrentanoUnknownyearppelmandikstranma pages 4-5).
4. Clinical phenotype: Dense but brittle bone with frequent fractures and delayed repair; skull base sclerosis with foraminal narrowing and cranial neuropathies; mandibular/dental complications; occasional marrow space compromise (funckbrentanoUnknownyearppelmandikstranm pages 3-4, funckbrentanoUnknownyearppelmandikstranma pages 4-5, nadyrshina2023clinicalgeneticaspects pages 2-3).

6.2 Pathways and molecular components

A 2023 craniofacial/dental mechanisms review describes core acidification machinery: CA2 generates H+; V-ATPase pumps H+; CLCN7/OSTM1 functions as a 2Cl−/H+ antiporter contributing to acidification and resorption processes; SLC4A2 supports Cl− flux and downstream protease activation and cytoskeletal/podosome dynamics (ma2023molecularmechanismsof pages 8-10).

6.3 Biomarkers / biochemical abnormalities

• TRAP5b: A 2024 review states “TRAP5b levels are always above the normal range in ADO” and recommends monitoring (funckbrentanoUnknownyearppelmandikstranma pages 4-5).
• A natural history biomarker study (n=54) found correlations with fracture burden: TRAP correlated positively with fractures (r=0.52), while resorption markers CTX and NTx/Cr correlated inversely (econs2026fracturesarehighly pages 1-3).

6.4 Cell types (Cell Ontology suggestions)

• Osteoclast (primary effector cell; CL term: osteoclast)
• Osteoblast/osteocyte (secondary remodeling context)

6.5 GO term suggestions (verify IDs during curation)

• Bone resorption
• Osteoclast differentiation
• Proton transmembrane transport / lysosomal acidification
• Chloride transmembrane transport

6.6 -omics / advanced technologies

• Human iPSC disease modeling exists for ADO2 and includes proteomic profiling of patient-derived iPSCs (Ou et al., 2019; not a 2023–2024 development but a relevant real-world model platform) (ou2019genotypinggenerationand…; see retrieved corpus).

7. Anatomical Structures Affected

7.1 Organ/system level

• Skeletal system (primary): spine, pelvis, long bones, skull base (funckbrentanoUnknownyearppelmandikstranm pages 3-4, wang2022naturalhistoryof pages 8-9)
• Cranial nerve pathways (secondary): optic canal narrowing with optic atrophy; auditory/facial nerve impingement (wang2022naturalhistoryof pages 8-9, funckbrentanoUnknownyearppelmandikstranma pages 4-5)
• Orofacial/dental: mandible and dentition (osteomyelitis, dental anomalies) (funckbrentanoUnknownyearppelmandikstranma pages 4-5, ma2023molecularmechanismsof pages 8-10)
• Hematopoietic system (variable/less common in ADO2 adults): marrow space compromise and cytopenias in more severe cases (funckbrentanoUnknownyearppelmandikstranm pages 3-4, wang2022naturalhistoryof pages 1-2)

7.2 UBERON suggestions (verify IDs)

• Bone of vertebral column; lumbar vertebra
• Pelvic bone
• Skull base
• Mandible
• Bone marrow

8. Temporal Development (Natural History)

• Typical onset: late childhood/adolescence to adulthood (ADO described as milder/benign adult form) (nadyrshina2023clinicalgeneticaspects pages 1-2, ma2023molecularmechanismsof pages 2-4).
• Course: Often described as relatively stable; however, fractures can occur repeatedly, and fracture healing may be prolonged (funckbrentanoUnknownyearppelmandikstranm pages 3-4, wang2022naturalhistoryof pages 1-2).
• In a retrospective cohort with follow-up (mean ~6.3 years), incident fractures occurred despite stable BMD (funckbrentanoUnknownyearppelmandikstranm pages 3-4, wang2022naturalhistoryof pages 5-6).

9. Inheritance and Population

9.1 Inheritance

• Autosomal dominant with incomplete penetrance and variable expressivity (funckbrentanoUnknownyearppelmandikstranm pages 3-4, kang2019acaseof pages 1-3).

9.2 Epidemiology

• Incidence estimate: ~1 in 20,000 births reported for ADO in multiple reviews/studies (funckbrentanoUnknownyearppelmandikstranm pages 1-3, nadyrshina2023clinicalgeneticaspects pages 1-2, econs2026fracturesarehighly pages 1-3).
• A 2023 craniofacial/dental review cites a frequency ~5.5 per 100,000 for OPTA2/ADO2 (ma2023molecularmechanismsof pages 2-4).

Demographics: A Chinese cohort reports fractures often occurring at ≤18 years among those who fracture (age distribution for fractures presented as “≤18/>18: 37/7”) (wang2022naturalhistoryof pages 8-9). Sex ratio and geographic/ancestry enrichment were not available in the retrieved evidence.

10. Diagnostics

10.1 Clinical criteria and imaging

Radiographic hallmarks (diagnostic cornerstone): - “Sandwich vertebrae”/vertebral endplate sclerosis; “bone-in-bone” appearances; skull base densification; Erlenmeyer-flask changes (funckbrentanoUnknownyearppelmandikstranm pages 3-4, funckbrentanoUnknownyearppelmandikstranma pages 4-5).

Imaging for complications: MRI/CT/tomodensitometry to monitor optic foramina and cranial nerve compression (funckbrentanoUnknownyearppelmandikstranm pages 3-4).

10.2 DXA and bone density

DXA typically shows markedly increased BMD (e.g., Z-score > +2), but BMD may not reliably predict fracture risk and routine serial BMD is not recommended for fracture-risk monitoring by one expert review (funckbrentanoUnknownyearppelmandikstranm pages 3-4).

10.3 Laboratory evaluation / biomarkers

• Suggested monitoring includes blood count and PTH (funckbrentanoUnknownyearppelmandikstranma pages 4-5).
• TRAP5b may be elevated and is suggested as a useful marker of osteoclast number in ADO (funckbrentanoUnknownyearppelmandikstranma pages 4-5).

10.4 Genetic testing

A cohort states: “The diagnosis of ADOII depends on clinical manifestations, typical imaging examinations and CLCN7 gene mutation” (wang2022naturalhistoryof pages 2-3). Practical approach: targeted CLCN7 testing or broader skeletal dysplasia/osteoclast disorder panels or exome sequencing depending on context.

10.5 Differential diagnosis

Not comprehensively captured in retrieved evidence; key clinical differentials include other osteosclerotic disorders and other osteopetrosis genetic subtypes (e.g., LRP5-driven OPTA1; recessive TCIRG1/OSTM1 forms), which differ in severity, hematologic involvement, and transplant responsiveness (nadyrshina2023clinicalgeneticaspects pages 2-3, ma2023molecularmechanismsof pages 12-13).

11. Outcome / Prognosis

• ADO2 is generally considered milder than infantile recessive osteopetrosis, but morbidity can be substantial due to fracture burden and cranial/dental complications (nadyrshina2023clinicalgeneticaspects pages 1-2, funckbrentanoUnknownyearppelmandikstranm pages 1-3).
• In one cohort, severe outcomes (visual loss 1/36; marrow failure 2/36) were uncommon but present (wang2022naturalhistoryof pages 1-2).

Quantitative survival/life expectancy statistics specific to ADO2 were not available in the retrieved evidence set.

12. Treatment

12.1 Current applications and real-world implementations (adult ADO2)

Consensus from adult osteopetrosis expert review: Adult ADO2 care is largely supportive and multidisciplinary, ideally in specialized centers, focusing on monitoring and managing fractures, dental/mandibular infections, and cranial nerve complications (funckbrentanoUnknownyearppelmandikstranm pages 1-3, funckbrentanoUnknownyearppelmandikstranma pages 4-5).

Examples of real-world management needs: - Mandibular osteomyelitis may require “long-term antibiotic therapy and surgical debridement” (funckbrentanoUnknownyearppelmandikstranma pages 4-5). - Skull base/cranial foramina involvement may require specialized ophthalmologic/ENT monitoring and, in some cases, surgical decompression or neurosurgical intervention (funckbrentanoUnknownyearppelmandikstranma pages 4-5).

12.2 HSCT (contextual, not typical for adult ADO2)

A 2023 review notes HSCT “is recognized as the most effective treatment, which allows restoration of bone resorption by cells of donor origin,” but also emphasizes genotype-specific contraindications (e.g., severe neurological disorders in TNFSF11/OSTM1) (nadyrshina2023clinicalgeneticaspects pages 2-3). Adult ADO2 (CLCN7) is generally managed conservatively rather than transplanted in the reviewed expert summary (funckbrentanoUnknownyearppelmandikstranm pages 1-3).

12.3 Experimental / emerging (research directions)

Expert reviews emphasize knowledge gaps and the need for therapies that restore osteoclast resorptive capacity and for better natural history/endpoint development (funckbrentanoUnknownyearppelmandikstranm pages 1-3, econs2026fracturesarehighly pages 1-3).

12.4 MAXO term suggestions (verify IDs)

• Orthopedic fracture management
• Surgical debridement (mandibular osteomyelitis)
• Long-term antibiotic therapy
• Ophthalmologic monitoring; ENT monitoring
• Genetic counseling

13. Prevention

No primary prevention exists for a Mendelian causal disorder; practical prevention is tertiary prevention of complications via surveillance and prompt management: - Prevent/manage dental infection and avoid high-risk dental trauma when possible; early referral for mandibular infection (funckbrentanoUnknownyearppelmandikstranma pages 4-5, ma2023molecularmechanismsof pages 12-13) - Monitor for cranial nerve compromise (vision/hearing) (funckbrentanoUnknownyearppelmandikstranma pages 4-5) - Genetic counseling for affected families due to AD inheritance and incomplete penetrance (kang2019acaseof pages 1-3)

14. Other Species / Natural Disease

No naturally occurring veterinary ADO2 analogs were identified in the retrieved evidence set.

15. Model Organisms

• Mouse (Clcn7-deficient models): described as recapitulating high bone density and multisystem phenotypes including neurodegeneration and dental/retinal abnormalities, supporting mechanistic relevance for CLCN7-dependent osteopetrosis (ma2023molecularmechanismsof pages 2-4).
• Myeloid cell-specific Clcn7 mutant mouse (e.g., Clcn7G763R): used to validate pathway-level findings in CLCN7-mutant osteopetrosis research (basit2026geneticsofosteopetrosis pages 8-9).
• Human iPSC models: ADO2-specific iPSCs with proteomic profiling exist, enabling disease modeling and therapeutic screening (Ou et al., 2019; see retrieved corpus).

Key quantitative evidence summary (for KB ingestion)

The following table consolidates incidence, penetrance, fracture burden, and recurrent CLCN7 variant frequencies and phenotype notes.

Table: This table compiles key quantitative data for autosomal dominant osteopetrosis type II, including incidence, penetrance, fracture burden, cohort sizes, and recurrent CLCN7 variants with associated phenotypes. It is useful as a quick evidence map for disease characterization and genotype-phenotype interpretation.

Visual evidence (radiographic and variant tables)

The ADO2 natural history cohort paper includes radiographic examples (sandwich vertebrae; bone-in-bone) and tables summarizing CLCN7 variants and their associated clinical/biochemical features (wang2022naturalhistoryof media 01f471f9, wang2022naturalhistoryof media 1e172433, wang2022naturalhistoryof media 154a27d0).

Recent developments and expert perspectives (2023–2024 emphasis)

• 2024 adult osteopetrosis review (European expert perspective): emphasizes ADO2 as the common adult osteopetrosis subtype; highlights incomplete penetrance, high fracture burden with delayed repair, cranial nerve/dental complications, and recommends multidisciplinary specialized follow-up; also underscores evidence gaps in natural history and need for improved clinical studies/endpoints (funckbrentanoUnknownyearppelmandikstranm pages 1-3, funckbrentanoUnknownyearppelmandikstranm pages 3-4).
• 2023 craniofacial/dental mechanisms review: reframes osteopetrosis diagnosis through “telltale” craniofacial/dental abnormalities and mechanistically groups causal genes (including CLCN7/TCIRG1/OSTM1) as controllers of osteoclastic acidification; recommends dental vigilance to reduce missed diagnoses (ma2023molecularmechanismsof pages 1-2, ma2023molecularmechanismsof pages 12-13).
• 2023 genetics/pathogenesis review: stresses genotype-guided care, noting HSCT efficacy and contraindications depend on genetic subtype and neurologic involvement (nadyrshina2023clinicalgeneticaspects pages 2-3).

Evidence limitations (explicit)

• Formal identifiers beyond MIM 166600, MONDO:0008156, and an osteopetrosis-category ICD-10-78.2 were not present in retrieved texts.
• Recent (2023–2024) ADO2-specific prospective interventional trials were not retrieved; management evidence is predominantly expert review and cohort/case literature.
• QoL instruments and population-level prevalence/incidence beyond estimates (1:20,000 births; 5.5/100,000 frequency cited) were not captured in the retrieved evidence set.

References

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9. (wang2022naturalhistoryof pages 8-9): Ziyuan Wang, Xiang Li, Ya Wang, Wenzhen Fu, Yujuan Liu, Zhenlin Zhang, and Chun Wang. Natural history of type ii autosomal dominant osteopetrosis: a single center retrospective study. Frontiers in Endocrinology, Mar 2022. URL: https://doi.org/10.3389/fendo.2022.819641, doi:10.3389/fendo.2022.819641. This article has 13 citations.

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11. (ma2023molecularmechanismsof pages 8-10): Yu Ma, Yali Xu, Yanli Zhang, and Xiaohong Duan. Molecular mechanisms of craniofacial and dental abnormalities in osteopetrosis. International Journal of Molecular Sciences, 24:10412, Jun 2023. URL: https://doi.org/10.3390/ijms241210412, doi:10.3390/ijms241210412. This article has 21 citations.

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14. (ma2023molecularmechanismsof pages 1-2): Yu Ma, Yali Xu, Yanli Zhang, and Xiaohong Duan. Molecular mechanisms of craniofacial and dental abnormalities in osteopetrosis. International Journal of Molecular Sciences, 24:10412, Jun 2023. URL: https://doi.org/10.3390/ijms241210412, doi:10.3390/ijms241210412. This article has 21 citations.

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