Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene.
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric dermatology"
DOI: 10.1111/pde.15320
Abstract: To date, more than 15 genes have been linked to syndromic and non-syndromic hypotrichosis, among which the LSS gene encoding lanosterol synthase was recently linked to autosomal recessive isolated hypotrichosis. Here we report the case… read more here.
Keywords: syndromic hypotrichosis; non syndromic; lss gene; hypotrichosis report ... See more keywords
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1008628
Abstract: Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis pathway. Biallelic mutations in LSS have… read more here.
Keywords: hypotrichosis; lss deficiency; mice; lss ... See more keywords