Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right ventricle. We hypothesized a novel autosomal r...

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Main Authors: Jacoba J Louw, Ricardo Nunes Bastos, Xiaowen Chen, Céline Verdood, Anniek Corveleyn, Yaojuan Jia, Jeroen Breckpot, Marc Gewillig, Hilde Peeters, Massimo M Santoro, Francis Barr, Koenraad Devriendt
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5794171?pdf=render

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http://europepmc.org/articles/PMC5794171?pdf=render

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