Article
[Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2007
Zhang Hong-wen, Ding Jie, Wang Fang, Yang Hui-xia
Abstract excerpt
OBJECTIVE: Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominance is the major inheritance form of the syndrome, accounting for almost 80% of the cases, caused by mutations in COL4A5 genes. There is currently no effective treatment that has been shown to favorably affect the outcome of AS, so early diagnosis and even prenatal diagnosis is...
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