pachyonychia congenita

Polymorphisms of Keratin 16 and 6A Genes in Two Chinese Families with Pachyonychia Congenita Type ⅰ Keratin 16 mRNA Expression in the Primary Bronchial Cancer Specimens

Ⅰ型先天性甲肥厚患者角蛋白16和6A基因多态性研究肺癌活检标本中K16mRNA表达水平的研究

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Keratin 17 Gene Mutation in a Pedigree with Pachyonychia Congenita type ⅱ

先天性厚甲症Ⅱ型一家系角蛋白17基因突变的研究

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The Development of Gene Investigation in Pachyonychia Congenita

先天性厚甲症基因研究进展

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Pachyonychia congenita with cutaneous horn-like lesions

伴皮角样损害的先天性厚甲症

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Background Pachyonychia congenita ( PC) is an autosomal dominant disorder that usually develops in early infancy.

研究背景先天性厚甲症（Pachyonychia congenita PC）是一种少见的常染色体显性遗传性皮肽病，为外胚叶发育不良性皮肤病。

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Objective To investigate the gene mutation in a pedigree with pachyonychia congenita type ⅱ( PC-ⅱ) and to explore the relationship between the mutation and clinical manifestations.

目的研究一先天性厚甲症Ⅱ型（PC鄄Ⅱ）患者家系基因突变，探讨基因突变和临床表现的关系。

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