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Article

Pituitary function and glucose tolerance in a family with a PAX6 mutation.

Annales d'endocrinologie - 1 Dec 2012

Hergott-Faure Lucie, Borot Sophie, Kleinclauss Colette, Abitbol Marc, Penfornis Alfred

Abstract excerpt

BACKGROUND: PAX6 is a transcription factor involved in the regulation of eye and islet cell development in humans and has also been shown to be an early marker of the pituitary gland in mice. While some subjects with PAX6 mutations were found to have impaired glucose tolerance or diabetes in two previous studies, there has been no report of systematic pituitary function assessment in these patients. AIM: The...

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Source

Identifiers

PMID: 23146210
DOI: 10.1016/j.ando.2012.10.001

Genes

PAX6

Provenance

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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