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
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
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DOI: 10.3390/genes14051113
Abstract: Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod–cone dystrophy, learning difficulties, renal… read more here.
Keywords: family; biedl syndrome; bardet biedl; family homozygous ... See more keywords