Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Authors :: Verhagen JMA
van den Born M
Kurul S
Asimaki A
van de Laar IMBH
Frohn-Mulder IME
Kammeraad JAE
Yap SC
Bartelings MM
van Slegtenhorst MA
von der Thüsen JH
Wessels MW
Source :: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2018 Dec; Vol. 11 (12), pp. e002397.
Publication Year :: 2018

Subjects :: Adult
Female
Homozygote
Humans
Infant, Newborn
Male
Mutation
Siblings
Hypoplastic Left Heart Syndrome genetics
Plakophilins genetics

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