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Pancreatic Agenesis

1. Disease Information

2026-05-09
Falcon MONDO:0009832 Model: Edison Scientific Literature 24 citations

1. Disease Information

1.1 Concise overview (current understanding)

Complete pancreatic agenesis is a rare congenital developmental disorder in which the pancreas fails to form (or is extremely hypoplastic), leading to severe insulin deficiency (typically diabetes in the first days of life) and absence of exocrine function requiring pancreatic enzyme replacement. (poppel2024pancreasagenesisand pages 8-9, poppel2024pancreasagenesisand pages 1-2)

1.2 Synonyms / alternative names

Commonly used names in the reviewed literature include: - Pancreas agenesis / pancreatic agenesis - Complete pancreatic agenesis - Pancreatic aplasia - Pancreatic hypoplasia (sometimes grouped with agenesis in neonatal diabetes cohorts) - Isolated pancreatic agenesis (used particularly for recessive PTF1A enhancer etiologies) A related but distinct condition is dorsal pancreatic agenesis (partial agenesis), which has different embryologic basis and can present later (often incidentally). (poppel2024pancreasagenesisand pages 1-2, li1999selectiveagenesisof pages 2-3)

1.3 Key identifiers (OMIM/Orphanet/ICD/MeSH/MONDO)

The retrieved full texts did not provide complete, citable disease identifiers (OMIM/Orphanet/ICD/MeSH/MONDO) for the disease entity “pancreatic agenesis.” Therefore, identifiers cannot be populated from tool-retrieved evidence in this run without risk of mislabeling. (poppel2024pancreasagenesisand pages 8-9)

2. Etiology

2.1 Primary causes

The dominant mechanistic class is Mendelian disruption of pancreatic developmental gene regulation, particularly transcription factors and their cis-regulatory elements. Key established etiologies include: - GATA6 haploinsufficiency (heterozygous, often de novo) as a major cause of pancreatic agenesis in humans. (allen2012gata6haploinsufficiencycauses pages 1-2) - PTF1A biallelic loss-of-function (coding) and PTF1A distal enhancer biallelic mutations (noncoding “enhanceropathy”), often presenting as isolated pancreatic agenesis with neonatal diabetes. (paksaz2025arare<i>ptf1a<i> pages 4-6, flanagan2014analysisoftranscription pages 5-5) - PDX1/IPF1 biallelic severe variants can cause complete agenesis; a mechanistic example is compound heterozygosity that markedly reduces IPF1 protein stability. (schwitzgebel2003agenesisofhuman pages 3-5, schwitzgebel2003agenesisofhuman pages 1-2)

A structured summary of major genes/variant classes is provided in the embedded artifact below.

Table (click to expand)
Gene / locus Inheritance pattern Typical presentation in complete pancreatic agenesis / aplasia Notable extrapancreatic features Example pathogenic variants / variant classes Key quantitative findings Key supporting paper(s), year, DOI/URL Evidence
GATA6 Usually heterozygous, often de novo; haploinsufficiency mechanism Permanent neonatal diabetes with exocrine pancreatic insufficiency requiring pancreatic enzyme replacement; imaging may show complete absence or marked hypoplasia of pancreas Congenital heart defects are most frequent; broader multisystem spectrum reported Inactivating variants including missense, frameshift, nonsense, and splice-site changes; Allen et al. found missense changes affecting the DNA-binding surface plus truncating/splicing alleles Allen 2012 identified GATA6 mutations in 15/27 (56%) individuals with pancreatic agenesis; congenital heart defects in 14/15 mutation-positive cases. Franco 2013 expanded this to 21/39 (54%) pancreatic agenesis cases with GATA6 mutations and 24/795 (3%) of the neonatal diabetes cohort; congenital heart defects in 21/24 (83%) probands (allen2012gata6haploinsufficiencycauses pages 1-2, franco2013gata6mutationscause pages 2-4, franco2013gata6mutationscause pages 1-2) Allen et al., 2012, doi:10.1038/ng.1035, https://doi.org/10.1038/ng.1035; Franco et al., 2013, doi:10.2337/db12-0885, https://doi.org/10.2337/db12-0885 (allen2012gata6haploinsufficiencycauses pages 1-2, franco2013gata6mutationscause pages 2-4, franco2013gata6mutationscause pages 1-2)
PTF1A coding region Usually autosomal recessive (biallelic severe alleles) Neonatal diabetes with severe exocrine pancreatic insufficiency / pancreatic agenesis; may be isolated pancreas phenotype or syndromic depending on allele Neurologic features can vary by allele severity; some reported patients have severe neurologic disease, whereas isolated pancreatic agenesis also occurs Splice-site, nonsense, frameshift, and hypomorphic coding variants; example intronic splice variant c.784+4A>G predicted to create alternative donor site causing frameshift and premature stop In the Allen 2012 pancreatic agenesis cohort, 1 subject had a homozygous PTF1A splice-site mutation after GATA6-negative investigation; later literature summarized multiple PTF1A cases with isolated pancreatic agenesis (allen2012gata6haploinsufficiencycauses pages 1-2, flanagan2014analysisoftranscription pages 5-5, paksaz2025arare<i>ptf1a<i> pages 6-7) Allen et al., 2012, doi:10.1038/ng.1035, https://doi.org/10.1038/ng.1035; Flanagan et al., 2014, doi:10.1016/j.cmet.2013.11.021, https://doi.org/10.1016/j.cmet.2013.11.021 (allen2012gata6haploinsufficiencycauses pages 1-2, flanagan2014analysisoftranscription pages 5-5)
PTF1A distal enhancer Usually autosomal recessive; biallelic noncoding enhancer defects Often isolated pancreatic agenesis with neonatal diabetes and exocrine insufficiency; important cause when coding exome is negative Typically fewer extrapancreatic anomalies than syndromic GATA6 disease Recurrent noncoding enhancer variants including g.23508437A>G (also reported as c.1570+4090T>C in some nomenclatures), plus g.23508365A>G, g.23508363A>G, g.23508441T>G 2025 review/case summary tabulated 30 reported cases (2008-2024) with PTF1A enhancer/coding defects; enhancer variant g.23508437A>G recurs in multiple homozygous cases. WES may miss this etiology, supporting targeted enhancer testing or WGS when clinical suspicion remains high (paksaz2025arare<i>ptf1a<i> pages 6-7, paksaz2025arare<i>ptf1a<i> pages 4-6) Paksaz et al., 2025, doi:10.5812/ijem-158056, https://doi.org/10.5812/ijem-158056 (paksaz2025arare<i>ptf1a<i> pages 6-7, paksaz2025arare<i>ptf1a<i> pages 4-6)
PDX1 / IPF1 Usually autosomal recessive for complete pancreatic agenesis; heterozygous milder alleles associated with later-onset diabetes/MODY spectrum Classic presentation is neonatal diabetes, profound insulin deficiency, intrauterine growth restriction, and exocrine pancreatic insufficiency / pancreatic agenesis Usually less syndromic than GATA6; phenotype severity depends on residual protein function Severe biallelic variants include truncating alleles and compound heterozygous missense variants; classic example E164D + E178K (compound heterozygous) Schwitzgebel 2003 showed E164D/E178K retain DNA binding and nuclear localization but markedly reduce protein stability: wild-type IPF1 half-life about 22 h in BHK21 cells versus ~8 h (E164D) and ~6 h (E178K); in InRIG9 cells about 32 h versus ~6.5 h and ~3.3 h, respectively, supporting a reduced-protein-threshold mechanism for agenesis (schwitzgebel2003agenesisofhuman pages 3-5, schwitzgebel2003agenesisofhuman pages 1-2, schwitzgebel2003agenesisofhuman pages 8-9) Schwitzgebel et al., 2003, doi:10.1210/jc.2003-030046, https://doi.org/10.1210/jc.2003-030046 (schwitzgebel2003agenesisofhuman pages 3-5, schwitzgebel2003agenesisofhuman pages 1-2, schwitzgebel2003agenesisofhuman pages 8-9)

Table: This table summarizes the principal Mendelian genetic causes of complete pancreatic agenesis/pancreatic aplasia, emphasizing inheritance, core neonatal presentation, major extrapancreatic findings, representative variants, and quantitative findings from key studies. It is useful for distinguishing the major causal genes and for prioritizing diagnostic testing strategies.

2.2 Risk factors

Genetic risk factors (causal variants): - GATA6: In a key cohort, 15/27 (56%) of pancreatic agenesis patients (defined as neonatal diabetes requiring insulin + exocrine insufficiency requiring enzyme therapy) had de novo heterozygous inactivating GATA6 mutations. (allen2012gata6haploinsufficiencycauses pages 1-2) - GATA6 (expanded cohort context): In an international neonatal diabetes cohort (n=795), 39 had pancreatic agenesis; pooled analysis indicated GATA6 mutations in 21/39 (54%) pancreatic agenesis cases, and overall 24/795 (3%) of neonatal diabetes cases carried GATA6 mutations. (franco2013gata6mutationscause pages 2-4) - PTF1A distal enhancer: recurrent enhancer variants reported, including g.23508437A>G (reported in multiple homozygous cases), and related enhancer substitutions. (paksaz2025arare<i>ptf1a<i> pages 6-7) - PDX1/IPF1: compound heterozygous missense variants E164D and E178K can cause agenesis by reducing protein half-life (see Mechanism). (schwitzgebel2003agenesisofhuman pages 3-5)

Environmental risk factors: For complete pancreatic agenesis itself, the retrieved evidence base emphasizes genetic causation; robust, citable environmental risk factors for the malformation were not present in the retrieved texts. (poppel2024pancreasagenesisand pages 8-9)

2.3 Protective factors / gene–environment interactions

No specific protective factors or gene–environment interactions were identified in the retrieved evidence for complete pancreatic agenesis. (poppel2024pancreasagenesisand pages 8-9)

3. Phenotypes

3.1 Core phenotype spectrum (human)

Across case-based and registry studies, the typical phenotype includes: - Neonatal diabetes mellitus (often within days of birth) due to profound insulin deficiency. In one GATA6-mutant series, median age at diabetes diagnosis was 2 days (IQR 1–7). (franco2013gata6mutationscause pages 2-4) - Exocrine pancreatic insufficiency often requiring enzyme replacement (frequently documented by low fecal elastase and/or steatorrhea). (franco2013gata6mutationscause pages 2-4, paksaz2025arare<i>ptf1a<i> pages 4-6) - Intrauterine growth restriction / small for gestational age, consistent with absent fetal insulin effects on growth. (poppel2024pancreasagenesisand pages 1-2) - Congenital malformations, particularly in syndromic forms (notably GATA6): congenital heart defects are common (e.g., 83% in one GATA6 cohort of probands). (franco2013gata6mutationscause pages 2-4)

3.2 Quantitative fetal growth phenotype (systematic semiquantitative analysis; 2024)

A 2024 semiquantitative analysis identified 49 published cases (1950–Jan 2023) with complete pancreatic agenesis and sufficient growth data. Using Intergrowth-21 standards, neonates were severely growth restricted with reductions in birth weight, birth length, and head circumference, and effects were more pronounced from ~36 weeks gestation onward; no sex differences were detected (limited power). (poppel2024pancreasagenesisand pages 1-2)

The figure/table images extracted below contain the underlying centile summaries/plots used for these conclusions.

Visual evidence (from the 2024 analysis): semiquantitative centile plots and tabulated summaries. (poppel2024pancreasagenesisand media ee293d7e, poppel2024pancreasagenesisand media 6ed53409, poppel2024pancreasagenesisand media 387114cf, poppel2024pancreasagenesisand media d41a1f4e, poppel2024pancreasagenesisand media dbeee7d7)

3.3 Example laboratory abnormalities (case-based)

In one recent PTF1A-enhancer case report, exocrine insufficiency was supported by markedly reduced fecal elastase (<21 mg/g; normal 200–500 mg/g) and stool fat abnormalities. (paksaz2025arare<i>ptf1a<i> pages 4-6)

3.4 HPO term suggestions (non-exhaustive)

Based on phenotypes explicitly described in retrieved evidence: - Neonatal diabetes mellitus (HP term corresponding to neonatal-onset diabetes) - Exocrine pancreatic insufficiency / Steatorrhea - Intrauterine growth restriction / Small for gestational age / Low birth weight - Congenital heart defect (broad; many specific CHD subtypes reported across GATA6 cases) - Pancreatic agenesis (structural abnormality term)

Because the HPO IDs were not provided in retrieved texts, terms are suggested descriptively rather than as exact HP identifiers. (poppel2024pancreasagenesisand pages 1-2, franco2013gata6mutationscause pages 2-4)

4. Genetic / Molecular Information

4.1 Causal genes (high-confidence from retrieved primary literature)

4.2 Variant classes and examples

4.3 Functional consequence patterns

5. Environmental Information

No reproducible, disease-specific environmental triggers for complete pancreatic agenesis were identified in the retrieved evidence; available literature emphasizes monogenic etiologies and developmental gene regulatory mechanisms. (poppel2024pancreasagenesisand pages 8-9)

6. Mechanism / Pathophysiology

6.1 Developmental causal chain (conceptual)

Gene dosage or regulatory disruption (e.g., GATA6 haploinsufficiency; PTF1A enhancer mutations; PDX1 protein destabilization) → failure of pancreatic progenitor specification/expansion and/or bud development → absent pancreatic tissue (endocrine + exocrine) → severe insulin deficiency in utero and after birth (growth restriction; neonatal diabetes) and exocrine insufficiency (malabsorption/steatorrhea). (poppel2024pancreasagenesisand pages 1-2, allen2012gata6haploinsufficiencycauses pages 1-2, schwitzgebel2003agenesisofhuman pages 3-5)

6.2 Mechanistic evidence: PDX1/IPF1 protein stability (human)

A mechanistic human example comes from IPF1/PDX1 compound heterozygous variants. The mutants retained DNA binding and nuclear localization, but had markedly reduced protein stability: wild-type IPF1 half-life was ~22 h in one cell context versus ~8 h (E164D) and ~6 h (E178K), with similar reductions in another cell context (~32 h vs ~6.5 h and ~3.3 h). This supports a model where insufficient IPF1 abundance (not defective binding) impairs transcriptional activation of pancreatic developmental programs, contributing to agenesis. (schwitzgebel2003agenesisofhuman pages 3-5)

6.3 Partial agenesis developmental model evidence (mouse; relevance for pancreas patterning)

In Hlxb9-deficient mice, dorsal pancreatic development is arrested prior to bud evagination, yielding selective dorsal pancreatic agenesis; early pancreatic markers are absent from dorsal epithelium while ventral pancreas forms, providing a developmental-genetic demonstration of region-specific pancreatic bud failure. While this is a partial-agenesis model (not complete agenesis), it supports the general concept that disruption of specific transcriptional programs can prevent pancreatic bud development. (li1999selectiveagenesisof pages 2-3)

6.4 Pathways and ontology suggestions

Based on the transcription-factor developmental biology described in retrieved evidence (without explicit ontology IDs in the texts): - GO biological process (suggestions): pancreas development; pancreatic bud morphogenesis; endocrine pancreas development; epithelial cell differentiation; regulation of transcription, DNA-templated. - Cell Ontology (CL) suggestions: pancreatic endocrine cell; pancreatic beta cell; pancreatic acinar cell; pancreatic ductal cell; pancreatic progenitor cell. - UBERON suggestions: pancreas; pancreatic bud; duodenum (foregut region relevant to bud evagination); endocrine pancreas; exocrine pancreas. (These are ontology-aligned suggestions; exact GO/CL/UBERON identifiers were not provided in the retrieved texts.) (schwitzgebel2003agenesisofhuman pages 3-5, li1999selectiveagenesisof pages 2-3)

7. Anatomical Structures Affected

7.1 Primary structures

7.2 Secondary/complication-related structures

8. Temporal Development

8.1 Onset

  • Structural defect is congenital.
  • Clinical onset is typically neonatal, often within the first days of life for diabetes (e.g., median 2 days in a GATA6-mutant cohort). (franco2013gata6mutationscause pages 2-4)

8.2 Course

  • Diabetes is usually permanent when pancreas is absent, requiring lifelong insulin.
  • Exocrine insufficiency often requires chronic enzyme supplementation.
  • Growth restriction occurs prenatally; the 2024 analysis suggests more pronounced growth deviation later in gestation (≥36 weeks). (poppel2024pancreasagenesisand pages 1-2)

9. Inheritance and Population

9.1 Inheritance patterns (gene-dependent)

9.2 Epidemiology (available statistics)

True prevalence of complete pancreatic agenesis is not well defined in the retrieved evidence and appears primarily as case reports.

However, related registry-scale context is available via neonatal diabetes: - In a large international neonatal diabetes cohort, GATA6 mutations were found in 24/795 (3%) subjects with diabetes diagnosed <6 months. (franco2013gata6mutationscause pages 1-2) - In a 2024 Italian dataset review of neonatal diabetes and congenital severe insulin resistance (n=104 total), the 20-year incidence for neonatal diabetes was estimated as 1:103,340 live births, and diagnostic yield of rare genes increased substantially after adoption of NGS; this paper explicitly notes precision management for “pancreas agenesis/hypoplasia (RFX6, PDX1)” including enzyme supplementation. (franco2013gata6mutationscause pages 1-2)

10. Diagnostics

10.1 Clinical suspicion

Key diagnostic trigger: diabetes diagnosed before 6 months, especially with evidence of exocrine insufficiency and/or absent pancreas on imaging. (franco2013gata6mutationscause pages 1-2, poppel2024pancreasagenesisand pages 8-9)

10.2 Imaging

In a PTF1A-enhancer case report, abdominal ultrasound was used as a first-line modality and MRI was used to confirm the absence of pancreatic tissue (noting MRI’s superior soft-tissue contrast). (paksaz2025arare<i>ptf1a<i> pages 4-6)

10.3 Laboratory tests / biomarkers

  • Hyperglycemia consistent with neonatal diabetes.
  • Fecal elastase (very low values can support exocrine insufficiency; e.g., <21 mg/g in one report). (paksaz2025arare<i>ptf1a<i> pages 4-6)

10.4 Genetic testing strategy (real-world implementation)

  • For suspected pancreatic agenesis with neonatal diabetes, sequencing strategies include targeted gene testing or gene panels/WES.
  • Important limitation: WES may miss noncoding enhancer and certain structural variants; one report describes WES-negative testing followed by targeted enhancer sequencing identifying a homozygous PTF1A enhancer variant and recommends WGS or targeted enhancer evaluation when clinical suspicion is high. (paksaz2025arare<i>ptf1a<i> pages 4-6)
  • In the 2012 Nature Genetics study, exome sequencing was used to identify GATA6 mutations in pancreatic agenesis cases, with deep coverage and de novo confirmation where parental DNA was available. (allen2012gata6haploinsufficiencycauses pages 1-2)

MAXO suggestions (diagnostic actions): genetic testing; abdominal MRI; abdominal ultrasound; fecal elastase testing.

11. Outcome / Prognosis

11.1 General prognosis

Outcome depends on comorbid malformations and adequacy of endocrine/exocrine replacement. In a case report of pancreatic agenesis with congenital anomalies, authors emphasize that “Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.” (franco2013gata6mutationscause pages 2-4)

11.2 Growth outcomes

Systematic review analysis shows severe prenatal growth restriction across multiple anthropometric measures, consistent with absent fetal insulin effects. (poppel2024pancreasagenesisand pages 1-2)

12. Treatment

12.1 Standard of care (current real-world implementation)

A practical neonatal management note from a PTF1A-enhancer case report is that NPH insulin may be selected to reduce hypoglycemia risk in infants, and careful caregiver education on insulin handling is emphasized. (paksaz2025arare<i>ptf1a<i> pages 6-7, paksaz2025arare<i>ptf1a<i> pages 4-6)

MAXO suggestions (therapeutic actions): insulin therapy; pancreatic enzyme replacement therapy; nutritional support/medical nutrition therapy; glucose monitoring.

12.2 Precision medicine in neonatal diabetes programs

A national dataset analysis emphasizes that rapid genetic diagnosis enabled appropriate, etiology-specific management, including pancreatic enzyme supplementation in “pancreas agenesis/hypoplasia (RFX6, PDX1).” (franco2013gata6mutationscause pages 1-2)

13. Prevention

Primary prevention of a congenital malformation is generally not feasible for monogenic etiologies. Prevention is therefore mostly: - Secondary/tertiary prevention: early recognition and prompt insulin + enzyme replacement to prevent metabolic decompensation, malnutrition, and growth failure. (franco2013gata6mutationscause pages 1-2) - Genetic counseling and reproductive options for families with recessive causes (e.g., PTF1A enhancer or PDX1 biallelic disease), including carrier testing and prenatal/preimplantation testing when familial variants are known (not explicitly detailed in retrieved texts but directly implied by Mendelian patterns and genetic diagnosis emphasis). (paksaz2025arare<i>ptf1a<i> pages 4-6)

14. Other Species / Natural Disease

The retrieved evidence did not identify naturally occurring veterinary analogs; however, developmental genetics across vertebrates supports conservation of pancreas developmental programs via transcription factors. (li1999selectiveagenesisof pages 2-3)

15. Model Organisms

15.1 Mouse models relevant to pancreatic agenesis biology

  • Hlxb9 (Hb9) knockout: causes selective dorsal pancreatic agenesis by failure of dorsal bud evagination, with absence of dorsal early pancreatic markers; illustrates how transcriptional programs control regional pancreas formation. (li1999selectiveagenesisof pages 2-3)

Model limitations: this is a partial-agenesis model (dorsal), so it recapitulates only a subset of complete pancreatic agenesis phenotypes. (li1999selectiveagenesisof pages 2-3)

Recent developments and latest research (prioritized 2023–2024)

  1. Fetal growth quantification from aggregated cases (2024): A semiquantitative analysis of 49 published cases (1950–Jan 2023) used Intergrowth-21 centiles to show severe growth restriction in complete pancreatic agenesis and suggested stronger effects late in gestation (≥36 weeks). (Jan 2024; https://doi.org/10.1530/ec-23-0500) (poppel2024pancreasagenesisand pages 1-2, poppel2024pancreasagenesisand media ee293d7e)
  2. Clinical genetics in neonatal diabetes programs (2024): A national cohort analysis in Italy (2003–2022) reports that NGS improved rare-gene diagnosis and explicitly links rapid genetic diagnosis to precision therapy, including enzyme supplementation in pancreas agenesis/hypoplasia (RFX6, PDX1), and provides a 20-year neonatal diabetes incidence estimate of 1:103,340 live births. (Feb 2024; https://doi.org/10.1210/clinem/dgae095) (franco2013gata6mutationscause pages 1-2)
  3. New GATA6 variants and longitudinal follow-up (2024): A 2024 report describes a novel splice-site deletion in GATA6 (c.1302+4_1302+7del) with neonatal diabetes and multisystem features and illustrates management benefit of enzyme replacement (details limited in retrieved excerpt). (Nov 2024; https://doi.org/10.3390/ijms252211998) (sechko2024theidentificationof pages 9-10)

Direct abstract-supported quotes (from retrieved abstracts)

Data gaps / limitations of this run

  • Disease identifiers (OMIM/Orphanet/ICD/MeSH/MONDO) were not available in the retrieved evidence snippets and cannot be safely filled without external database retrieval.
  • Several key historical landmark papers (e.g., the 2014 Nature Genetics PTF1A enhancer paper) were referenced but not fully obtainable in the tool session, limiting PMID extraction for those specific items.

References

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  2. (poppel2024pancreasagenesisand pages 1-2): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.

  3. (franco2013gata6mutationscause pages 1-2): Elisa De Franco, Charles Shaw-Smith, Sarah E. Flanagan, Maggie H. Shepherd, Andrew T. Hattersley, and Sian Ellard. Gata6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62:993-997, Feb 2013. URL: https://doi.org/10.2337/db12-0885, doi:10.2337/db12-0885. This article has 168 citations and is from a highest quality peer-reviewed journal.

  4. (li1999selectiveagenesisof pages 2-3): Hao Li, Silvia Arber, Thomas M. Jessell, and Helena Edlund. Selective agenesis of the dorsal pancreas in mice lacking homeobox gene hlxb9. Nature Genetics, 23:67-70, Sep 1999. URL: https://doi.org/10.1038/12669, doi:10.1038/12669. This article has 487 citations and is from a highest quality peer-reviewed journal.

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  10. (franco2013gata6mutationscause pages 2-4): Elisa De Franco, Charles Shaw-Smith, Sarah E. Flanagan, Maggie H. Shepherd, Andrew T. Hattersley, and Sian Ellard. Gata6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62:993-997, Feb 2013. URL: https://doi.org/10.2337/db12-0885, doi:10.2337/db12-0885. This article has 168 citations and is from a highest quality peer-reviewed journal.

  11. (paksaz2025arare<i>ptf1a<i> pages 6-7): Mahdi Paksaz, Hedieh Saneifard, Alimohammad Mirdehghan, Asieh Mosallanejad, Marjan Shakiba, and Mohammad Saberi. A rare <i>ptf1a</i> enhancer mutation causing neonatal diabetes mellitus with pancreatic agenesis: case report and considerations for genetic evaluation. International Journal of Endocrinology and Metabolism, Jan 2025. URL: https://doi.org/10.5812/ijem-158056, doi:10.5812/ijem-158056. This article has 1 citations.

  12. (schwitzgebel2003agenesisofhuman pages 8-9): Valerie M. Schwitzgebel, Aline Mamin, Thierry Brun, Beate Ritz-Laser, Maia Zaiko, Alexandre Maret, Francois R. Jornayvaz, Gerald E. Theintz, Olivier Michielin, Danielle Melloul, and Jacques Philippe. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. The Journal of clinical endocrinology and metabolism, 88 9:4398-406, Sep 2003. URL: https://doi.org/10.1210/jc.2003-030046, doi:10.1210/jc.2003-030046. This article has 224 citations.

  13. (poppel2024pancreasagenesisand media ee293d7e): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.

  14. (poppel2024pancreasagenesisand media 6ed53409): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.

  15. (poppel2024pancreasagenesisand media 387114cf): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.

  16. (poppel2024pancreasagenesisand media d41a1f4e): Mireille N M van Poppel, Christopher J Nolan, and Gernot Desoye. Pancreas agenesis and fetal growth: a semiquantitative analysis. Endocrine Connections, Jan 2024. URL: https://doi.org/10.1530/ec-23-0500, doi:10.1530/ec-23-0500. This article has 3 citations and is from a peer-reviewed journal.

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