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European journal of dermatology : EJD

Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis.


PMID 22155146

Abstract

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of non-syndromic hereditary alopecia. Recently, loss-of-function mutations of an inhibitory upstream open reading frame (ORF) in the human hairless gene (HR), named U2HR, have been identified in some patients with MUHH. We investigated a sporadic Chinese patient with MUHH and identified a novel mutation in U2HR, c.14C>T (p.T5M), which extends the mutation spectrum of U2HR mutations.

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