Clarke Fraser

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different missense mutations of the gene GJB6, encoding connexin-30 (CX30), cause hidrotic ectodermal dysplasia (HED, MIM 129500; also known as Clouston syndrome). This disease is an autosomal dominant skin disorder characterized by palmoplantar hyperkeratosis, hair defects (from partial to total alopecia), nail hypoplasia and nail deformities1. HED occurs(More)
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