LSS

Publications

Besnard T et al. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Genet Med. 2019;21(9):2025-2035. PMID : 30723320.

Murata M et al. Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene. J Dermatol. 2021;48(3):392-396. PMID: 33155697.

Romano MT et al. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018;103(5):777-785. PMID : 30401459.

Zhao L et al. Lanosterol reverses protein aggregation in cataracts. Nature. 2015;523(7562):607-11. PMID : 26200341.