A Novel Nonsense Mutation in the STS Gene in a Pakistani Family with X-Linked Recessive Ichthyosis: Including a Very Rare Case of Two Homozygous Female Patients

    January 2020 in “ BMC Medical Genetics ”
    Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah … Ahmed Bilal Waqar
    Studysummary In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
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    Research cited in this study 2

    1. Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014
    2. Male-Pattern Baldness Is Common in Men With X-Linked Recessive Ichthyosis Dermatology · 2003

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