Article
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
Journal of the American Society of Nephrology : JASN - 1 Mar 2021
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
Abstract excerpt
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 monogenic causes of GAMOS has uncovered molecular pathways involved in the pathogenesis of disease. METHODS: Homozygosity...
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