Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llad005
Abstract: Congenital atrichia is a rare disorder featuring the gradual shedding of hair at birth with near total hair loss in succeeding weeks or months. When accompanied by milia-like papules on the face or body, it… read more here.
Keywords: hairless gene; atrichia papular; homozygous nonsense; papular lesions ... See more keywords
Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Iranian Journal of Public Health"
DOI: 10.18502/ijph.v50i6.6429
Abstract: Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated… read more here.
Keywords: mutations alopecia; gene nonsense; hairless gene; nonsense mutations ... See more keywords