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Article

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

American journal of human genetics - 4 Aug 2016

Le Goff Carine, Rogers Curtis, Le Goff Wilfried, Pinto Graziella, Bonnet Damien, Chrabieh Maya, Alibeu Olivier, Nistchke Patrick, Munnich Arnold, Picard Capucine, Cormier-Daire Valérie

Abstract excerpt

Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mutations in six distinct CSCF-affected individuals from four...

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Identifiers

PMID: 27426734
DOI: 10.1016/j.ajhg.2016.06.005
PMCID: PMC4974068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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