Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. [electronic resource]
- PLoS genetics 01 2018
- e1007138 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1553-7404
10.1371/journal.pgen.1007138 doi
Cardiomyopathies--congenital Female Genes, Lethal Heterozygote Humans Infant Infant Death Kinesins--genetics Male Mutation, Missense Pedigree Pregnancy Recurrence Siblings