Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene

    October 2022 in “ Journal of Molecular Neuroscience ”
    Nesma M. Elaraby, Hoda A. Ahmed, Neveen A. Ashaat … Engy A. Ashaat
    Studysummary This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
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    Research cited in this study 1

    1. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018