Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

    April 2014 in “ PLoS ONE ”
    Doroteya Raykova, Joakim Klar, Aysha Azhar … Niklas Dahl
    Studysummary In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
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    Research cited in this study 18

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