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

    April 2008 in “ Clinical Genetics
    Limor Avrahami, Saskia M. Maas, Metsada Pasmanik‐Chor, Limor Rainshtein, Nurit Magal, JHS Smitt, Jan van Marle, M Shohat, 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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