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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Detalles Bibliográficos
Autores principales: Louw, Jacoba J., Nunes Bastos, Ricardo, Chen, Xiaowen, Verdood, Céline, Corveleyn, Anniek, Jia, Yaojuan, Breckpot, Jeroen, Gewillig, Marc, Peeters, Hilde, Santoro, Massimo M., Barr, Francis, Devriendt, Koenraad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794171/
https://www.ncbi.nlm.nih.gov/pubmed/29357359
http://dx.doi.org/10.1371/journal.pgen.1007138

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