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Article

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Journal of medical genetics - 1 Apr 2023

Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, Cormier-Daire Valerie

Abstract excerpt

BACKGROUND: Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The EVC and EVC2 genes are the major genes causative of EVC syndrome. However, an...

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PMID: 35927022
DOI: 10.1136/jmg-2022-108435

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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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Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.PMID 35927022Read ↗

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Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Semantic proximity Read ↗

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