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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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2021
Assuntos:
Basic Research
Acesso em linha: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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