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Dyskeratosis congenita: A case report
Author(s): 
Pages: 191-192
Year: Issue:  3
Journal: JOURNAL OF CLINICAL DERMATOLOGY

Keyword:  先天性角化不良症外胚叶发育不良;
Abstract: 先天性角化不良症,又称ZinsserEngmanCole综合征,是一种罕见的X连锁遗传疾病,主要表现为外胚叶发育不良,以皮肤网状色素沉着、粘膜白斑、甲营养不良为典型特征,我们报告1例20岁男性先天性角化不良症并对其家系进行调查,结果显示家系中共有4兄弟患病,符合X连锁隐性遗传(XLR)特点.
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