Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes
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DOI：
10.1111/j.1749-6632.2010.05817.x
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发表时间：
2010-01-01
期刊：
影响因子：
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通讯作者：
Antignac, Corinne
中科院分区：
文献类型：
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作者：
Benoit, Genevieve;Machuca, Eduardo;Antignac, Corinne
A Mendelian inheritance underlies a nonnegligible proportion of hereditary kidney diseases, suggesting that the encoded proteins are essential for maintenance of the renal function. The identification of genes involved in congenital anomalies of the kidney and in familial forms of nephrotic syndrome significantly increased our understanding of the renal development and kidney filtration barrier physiology. This review will focus on the classical phenotype and clinical heterogeneity observed in the monogenic forms of these disorders. In addition, the role of susceptibility genes in kidney diseases with a complex inheritance will also be discussed.
