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Article

PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.

Indian pediatrics - 15 Dec 2017

Kulkarni Abhishek, Sharma Varun K, Nabi Fazal

Abstract excerpt

BACKGROUND: Neonatal diabetes mellitus is a rare condition. CASE CHARACTERISTICS: A small for gestational age male, presented with neonatal onset diabetes mellitus, duodenal atresia, annular pancreas and gall bladder hypoplasia. OBSERVATION: Observation: A novel homozygous mutation p.K163R (c.488A>G) in the PDX1 gene was found. Parents were heterozygous for the same. MESSAGE: This case highlights the importance...

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Source

Identifiers

PMID: 29317564
DOI: 10.1007/s13312-017-1211-2

Genes

PDX1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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