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BACKGROUND Hidrotic ectodermal dysplasia (HED), also named as Clouston syndrome, is a rare autosomal dominant disease. Mutations in GJB6, GJB2 and GJA1 are related to HED. OBJECTIVE Summarize the clinical feature and analyse the mutation of the GJB6 gene in a large Chinese family with HED. METHODS We collected a very large Chinese family with HED.(More)
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