Article
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Clinical genetics - 1 Mar 2018
Niceta M, Margiotti K, Digilio M C, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici M L, Consoli F, Torrente I, Ruiz-Perez V L, Dallapiccola B, Marino B, De Luca A, Tartaglia M
Abstract excerpt
Ellis-van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify the genetic cause of EvC in a cohort of mutation-negative patients, exome sequencing was undertaken in a family with 3 affected members, and mutation scanning of a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.