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 SprecherPublished 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.