Article
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.
European journal of medical genetics - 1 Apr 2019
Saskin Avi, Alfares Ahmed, Bernard Chantal, Blumenkrantz Miriam, Braverman Nancy, Gupta Indra, Brosnihan K Bridget, Antignac Corinne, Gubler Marie Claire, Morinière Vincent, De Bie Isabelle, Bitzan Martin
Abstract excerpt
Renal tubular dysgenesis (RTD) is a developmental abnormality of the nephron characterized by fetal anuria, oligohydramnios, and severe postnatal hypotension. Genetic forms have an autosomal recessive inheritance and are caused by mutations in genes encoding key components of the renin-angiotensin pathway. We report three patients from two unrelated families with RTD due to pathogenic variants of the...
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