Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are...
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Frontiers Media S.A.,
2018-01-01T00:00:00Z.
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