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[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2013

Di Benedetto M, Richard O, Pélissier P, Darteyre S, Cavé H, Stéphan J-L

Abstract excerpt

Permanent neonatal diabetes mellitus is a rare disorder usually presenting within the first few weeks or months of life and defined by chronic hyperglycemia due to severe nonautoimmune insulin deficiency. Nonsyndromic neonatal diabetes is genetically heterogeneous and several genes have been linked to this disorder. Here, we report on a new homozygous recessive mutation in the INS gene in 2 siblings born to...

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Identifiers

PMID: 23245869
DOI: 10.1016/j.arcped.2012.11.009

Genes

INS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Permanent neonatal diabetes and recessive mutation in the INS gene: a familial history].PMID 23245869Read ↗

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