Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

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....

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Publié dans:Am J Hum Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Elsevier 2017
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673669/
https://ncbi.nlm.nih.gov/pubmed/29100091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.026
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