Article
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nature genetics - 1 Sept 2005
Gribouval Olivier, Gonzales Marie, Neuhaus Thomas, Aziza Jacqueline, Bieth Eric, Laurent Nicole, Bouton Jean Marie, Feuillet François, Makni Saloua, Ben Amar Hatem, Laube Guido, Delezoide Anne-Lise, Bouvier Raymonde, Dijoud Frédérique, Ollagnon-Roman Elisabeth, Roume Joelle, Joubert Madeleine, Antignac Corinne, Gubler Marie Claire
Abstract excerpt
Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathological hallmark of the disease and may be associated with skull ossification defects. We studied...
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