Article
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
American journal of medical genetics. Part A - 1 Jul 2014
Oud Machteld M, van Bon Bregje W, Bongers Ernie M H F, Hoischen Alexander, Marcelis Carlo L, de Leeuw Nicole, Mol Suzanne J J, Mortier Geert, Knoers Nine V A M, Brunner Han G, Roepman Ronald, Arts Heleen H
Abstract excerpt
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that is the most frequent monogenic cause of end-stage renal disease in children. Infantile NPHP, often in combination with other features like situs inversus, are commonly caused by mutations in the INVS gene. INVS encodes the ciliary protein inversin, and mutations induce dysfunction of the primary cilia. In this article, we present a...
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