Article
Congenital valvular defects associated with deleterious mutations in the PLD1 gene.
Journal of medical genetics - 1 Apr 2017
Ta-Shma Asaf, Zhang Kai, Salimova Ekaterina, Zernecke Alma, Sieiro-Mosti Daniel, Stegner David, Furtado Milena, Shaag Avraham, Perles Zeev, Nieswandt Bernhard, Rein Azaria J J T, Rosenthal Nadia, Neiman Aaron M, Elpeleg Orly
Abstract excerpt
BACKGROUND: The underlying molecular aetiology of congenital heart defects is largely unknown. The aim of this study was to explore the genetic basis of non-syndromic severe congenital valve malformations in two unrelated families. METHODS: Whole-exome analysis was used to identify the mutations in five patients who suffered from severe valvular malformations involving the pulmonic, tricuspid and mitral valves....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.