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Article

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

American journal of medical genetics. Part A - 1 Jun 2014

Dubruc Estelle, Putoux Audrey, Labalme Audrey, Rougeot Christelle, Sanlaville Damien, Edery Patrick

Abstract excerpt

A girl patient born to healthy nonconsanguineous parents was referred at age 3 years and 2 months to our genetics department for testing due to developmental delay and postnatal microcephaly. Initial clinical evaluation revealed an overall developmental delay, mildly dysmorphic features, thin, sparse fair hair, and fair skin. Postnatal microcephaly and progressive ataxia and spasticity appeared later. Array CGH...

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Source

Identifiers

PMID: 24668549
DOI: 10.1002/ajmg.a.36484

Genes

CTNNB1

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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