Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
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Besnard T, et al. Among authors: delignieres a.
Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6.
Genet Med. 2019.
PMID: 30723320
Free article.