Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monoge...

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Publicat a:J Am Soc Nephrol
Autors principals: Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kühl, Susanne J., Schanze, Denny, Klämbt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kühl, Michael, Onuchic-Whitford, Ana C., Treimer, Ernestine, Kitzler, Thomas M., Kause, Franziska, Schumann, Sven, Nakayama, Makiko, Buerger, Florian, Shril, Shirlee, van der Ven, Amelie T., Majmundar, Amar J., Holton, Kristina Marie, Kolb, Amy, Braun, Daniela A., Rao, Jia, Jobst-Schwan, Tilman, Mildenberger, Eva, Lennert, Thomas, Kuechler, Alma, Wieczorek, Dagmar, Gross, Oliver, Ermisch-Omran, Beate, Werberger, Anja, Skalej, Martin, Janecke, Andreas R., Soliman, Neveen A., Mane, Shrikant M., Lifton, Richard P., Kadlec, Jan, Guccione, Ernesto, Schmeisser, Michael J., Zenker, Martin, Hildebrandt, Friedhelm
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2021
Matèries:
Basic Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7920168/
https://ncbi.nlm.nih.gov/pubmed/33593823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2020040490
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