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Article

[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family].

Nephrologie & therapeutique - 1 Jul 2009

Rigothier Claire, Harambat Jérôme, Llanas Brigitte, Subra Jean-François, Combe Christian

Abstract excerpt

TCF2 gene's mutation of autosomal dominant inheritance, encoding for the HNF-1 beta transcription factor, is associated with monogenic Mody5 diabetes, renal structural and urogenital abnormalities, and hepatic cholestasis. We have identified a family with HNF-1 beta gene's mutation, and very different phenotypic expression: renal abnormalities with cysts, nephrocalcinosis, polyuropolydipsic syndrome, Mody5...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19346182
DOI: 10.1016/j.nephro.2009.02.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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