Article
A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.
Clinical genetics - 1 Oct 2020
Saygili Seha, Atayar Emine, Canpolat Nur, Elicevik Mehmet, Kurugoglu Sebuh, Sever Lale, Caliskan Salim, Ozaltin Fatih
Abstract excerpt
Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end-stage kidney disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all of which only explain 10% to 20% of all patients with CAKUT, suggesting the presence of additional genes that cause CAKUT when mutated. Herein, we report two siblings of a consanguineous family with CAKUT, both of...
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