Four Hypotrichosis Families With Mutations in the Gene LSS Presenting With and Without Neurodevelopmental Phenotypes

    Nicole Cesarato, Maria Wehner, M Ghughunishvili … Regina C. Betz
    Studysummary This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
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    Research cited in this study 2

    1. Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice PLOS genetics · 2020
    2. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018