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Article

PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

Clinical genetics - 1 Feb 2018

Caetano L A, Santana L S, Costa-Riquetto A D, Lerario A M, Nery M, Nogueira G F, Ortega C D, Rocha M S, Jorge A A L, Teles M G

Abstract excerpt

Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1 . Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in 2 patients with PDX1 -MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control...

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Source

Identifiers

PMID: 28436541
DOI: 10.1111/cge.13044

Genes

PDX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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