Article
Expanding the clinical spectrum of biallelic ZNF335 variants.
Clinical genetics - 1 Aug 2018
Stouffs K, Stergachis A B, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill H E, Partlow J N, Walsh C A, Jansen A C
Abstract excerpt
ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in 2 unrelated families. We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.