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Article

TCF4 deletions in Pitt-Hopkins Syndrome.

Human mutation - 1 Nov 2008

Giurgea Irina, Missirian Chantal, Cacciagli Pierre, Whalen Sandra, Fredriksen Tessa, Gaillon Thierry, Rankin Julia, Mathieu-Dramard Michele, Morin Gilles, Martin-Coignard Dominique, Dubourg Christèle, Chabrol Brigitte, Arfi Jacqueline, Giuliano Fabienne, Claude Lambert Jean, Philip Nicole, Sarda Pierre, Villard Laurent, Goossens Michel, Moncla Anne

Abstract excerpt

Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips). PHS was shown to be caused by de novo heterozygous mutations of the TCF4 gene, located in 18q21. We selected for this study 30 unrelated patients whose phenotype overlapped PHS but...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 18

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18781613
DOI: 10.1002/humu.20859

Genes

TCF4

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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