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