Article
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Human mutation - 1 Feb 2012
Gribouval Olivier, Morinière Vincent, Pawtowski Audrey, Arrondel Christelle, Sallinen Satu-Leena, Saloranta Carola, Clericuzio Carol, Viot Géraldine, Tantau Julia, Blesson Sophie, Cloarec Sylvie, Machet Marie Christine, Chitayat David, Thauvin Christelle, Laurent Nicole, Sampson Julian R, Bernstein Jonathan A, Clemenson Alix, Prieur Fabienne, Daniel Laurent, Levy-Mozziconacci Annie, Lachlan Katherine, Alessandri Jean Luc, Cartault François, Rivière Jean Pierre, Picard Nicole, Baumann Clarisse, Delezoide Anne Lise, Belar Ortega Maria, Chassaing Nicolas, Labrune Philippe, Yu Sui, Firth Helen, Wellesley Diana, Bitzan Martin, Alfares Ahmed, Braverman Nancy, Krogh Lotte, Tolmie John, Gaspar Harald, Doray Bérénice, Majore Silvia, Bonneau Dominique, Triau Stéphane, Loirat Chantal, David Albert, Bartholdi Deborah, Peleg Amir, Brackman Damien, Stone Rosario, DeBerardinis Ralph, Corvol Pierre, Michaud Annie, Antignac Corinne, Gubler Marie Claire
Abstract excerpt
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding...
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