Inherited cerebrorenal syndromes

被引：0
作者：
Scott J. Schurman
Steven J. Scheinman
机构：
[1] SUNY Upstate Medical University,Departments of Pediatrics and Medicine
[2] SUNY Upstate Medical University,Departments of Medicine
来源：
Nature Reviews Nephrology | 2009年 / 5卷
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摘要：
In this Review, Schurman and Scheinman detail the clinical and genetic features of syndromes with a defined genetic basis that are characterized by the concomitant presence of abnormalities of the central nervous system and kidneys. The authors focus their attention on the oculocerebrorenal syndrome of Lowe and on ciliopathies—particularly Joubert syndrome and Bardet–Biedl syndrome.
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页码：529 / 538
页数：9
相关论文
共 153 条
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