Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

doi:10.1016/j.ajhg.2017.09.026

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Article

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

American journal of human genetics - 2 Nov 2017

De Tomasi Lara, David Pierre, Humbert Camille, Silbermann Flora, Arrondel Christelle, Tores Frédéric, Fouquet Stéphane, Desgrange Audrey, Niel Olivier, Bole-Feysot Christine, Nitschké Patrick, Roume Joëlle, Cordier Marie-Pierre, Pietrement Christine, Isidor Bertrand, Khau Van Kien Philippe, Gonzales Marie, Saint-Frison Marie-Hélène, Martinovic Jelena, Novo Robert, Piard Juliette, Cabrol Christelle, Verma Ishwar C, Puri Ratna, Journel Hubert, Aziza Jacqueline, Gavard Laurent, Said-Menthon Marie-Hélène, Heidet Laurence, Saunier Sophie, Jeanpierre Cécile

Abstract excerpt

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological...

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PMID: 29100091
DOI: 10.1016/j.ajhg.2017.09.026
PMCID: PMC5673669

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