Mutation in Ribosomal Protein L21 Underlies Hereditary Hypotrichosis Simplex

来源 :2012 International Dermatogenetics Workshop(第三届世界皮肤病遗传大会) | 被引量 : 0次 | 上传用户:zxlpku
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  Hereditary hypotrichosis simplex (HHS) is a form of nonsyndromic inherited hair loss disorders without characteristic hair shaft changes, which has marked genetic and clinical heterogeneity.Depending on the body parts involved, HHS can essentially be categorized into two forms: the scalp-limited form, in which only hair on the scalp is affected, and the generalized form, in which all body hair is affected.Mutations in the CDSN gene have been identified as a cause of the scalp-limited form of autosomal dominant HHS (ADHHS).And APCDD1 gene, a Wnt inhibitor,located on chromosome 18p11.32-p11.23, was identified as a causative gene in a generalized form of ADHHS.
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