Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations.

I LSS i gene (OMIM #600909) encodes lanosterol synthase, which plays a key role in the cholesterol synthesis pathway. Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex. [Extracted from the article]