Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
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DOI: 10.1371/journal.pgen.1007138
Abstract: 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… read more here.
Keywords: congenital; lethal congenital; loss function; two siblings ... See more keywords