Article
[Mutations in renin-angiotensin system genes and kidney developmental anomalies].
Journal de la Societe de biologie - 1 Jan 2009
Gubler Marie-Claire, Gribouval Olivier, Morinière Vincent, Pawtowski Audrey, Antignac Corinne
Abstract excerpt
Autosomal recessive renal tubular dysgenesis (RTD) is a clinical disorder observed in fetuses, characterized by absence or poor development of proximal tubules and early onset and persistent oligohydramnios leading to the Potter sequence, associated with skull ossification defect. The disease is uniformly severe resulting in low blood pressure and perinatal death in most cases or in chronic renal disease in the...
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