Autosomal Recessive Hereditary Hypotrichosis Simplex: A Case Report

    November 2024 in “ JAAD Case Reports ”
    Esraa A. Shaheen, Sahal J Samarkandy, Renad Abbas … Abdullah Ayman Aman
    Studysummary In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 2

    1. Four Hypotrichosis Families With Mutations in the Gene LSS Presenting With and Without Neurodevelopmental Phenotypes American Journal of Medical Genetics Part A · 2021
    2. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018