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Article

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

European journal of medical genetics - 1 Jun 2016

Kharbanda Mira, Kannike Kaja, Lampe Anne, Berg Jonathan, Timmusk Tõnis, Sepp Mari

Abstract excerpt

Mutations in TCF4 (basic helix-loop-helix transcription factor 4), a gene with complex organization and multiple transcription initiation sites, are usually associated with Pitt-Hopkins syndrome (PTHS). However, a translocation encompassing the 5' end of TCF4 and several point mutations have been linked to non-syndromic intellectual disability (NSID). Here we describe a family with autosomal dominantly inherited...

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Source

Identifiers

PMID: 27132474
DOI: 10.1016/j.ejmg.2016.04.003

Genes

TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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