Article
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus.
Clinical nephrology - 1 Feb 2008
Okada M, Sugimoto K, Shimada Y, Fujita S, Yanagida H, Yagi K, Takemura T
Abstract excerpt
Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH). Infantile NPH shows marked cyst formation in contrast to other forms of NPH and rapidly progresses to end-stage renal failure (ESRD) before 5 years of age. In this report, we describe an adolescent with a mutation in INVS...
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