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

Marion Aubert-MuccaCéline HuberGenevieve BaujatCaroline MichotMohammed ZarhrateMarc BrasLucile BoutaudValérie MalanTania Attie-Bitachnull nullValerie Cormier-Daire

Published in: Journal of medical genetics (2022)

are the major genes involved in the EVC phenotype and highlighted the high prevalence of previously unreported CNVs (Copy Number Variation).

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
case report
single molecule
gene expression