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

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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

Journal title: PLoS Genetics

Journal number: 3

Journal publisher: Public Library of Science

Published year: 2018

DOI identifier: 10.1371/journal.pgen.1007138

ISSN: 1553-7390