Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

Liron MalkiOfer SarigNicole CesaratoJanan MohamadTalia CanterSari AssafMor PavlovskyDan VodoYossi AnisOfer BihariKiril MalovitskiAndrea GatHolger ThieleBethany E Perez WhiteLiat SamuelovArti NandaAmy S PallerRegina C BetzEli Sprecher

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

LAH can be caused by abnormal function of at least three proteins which are necessary for proper LPA biosynthesis.

Keyphrases

copy number
intellectual disability
gene expression
autism spectrum disorder
muscular dystrophy