Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.

Alexandros OnoufriadisA CabezasJ C F NgJ CanalesMaría Jesús CostasJ M RibeiroJ R RodriguesM A McAleerLeslie A Castelo-SoccioM A SimpsonF FraternaliAlan D IrvineJ C CameselleJohn A McGrath

Published in: The British journal of dermatology (2020)

TKFC missense mutations may predispose to the development of loose anagen hairs. Identification of this new biochemical pathobiology expands the metabolic and genetic basis of hypotrichosis.

Keyphrases

intellectual disability
genome wide
copy number
gene expression
dna methylation
muscular dystrophy