Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

    April 2008 in “ Clinical Genetics ”
    Limor Avrahami, Saskia M. Maas, Metsada Pasmanik‐Chor … Lina Basel‐Vanagaite
    Studysummary This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
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    Research cited in this study 3

    1. Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007
    2. Matriptase: Potent Proteolysis on the Cell Surface Molecular Medicine · 2006
    3. Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis Oncogene · 2002

    Related research 4

    1. Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities Archives of dermatological research · 2017
    2. Inherited Ichthyosis: Syndromic Forms Journal of dermatology · 2016
    3. Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008
    4. Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype Clinical Genetics · 2008