Article
SIX2 and BMP4 mutations associate with anomalous kidney development.
Journal of the American Society of Nephrology : JASN - 1 May 2008
Weber Stefanie, Taylor Jaclyn C, Winyard Paul, Baker Kari F, Sullivan-Brown Jessica, Schild Raphael, Knüppel Tanja, Zurowska Aleksandra M, Caldas-Alfonso Alberto, Litwin Mieczyslaw, Emre Sevinc, Ghiggeri Gian Marco, Bakkaloglu Aysin, Mehls Otto, Antignac Corinne, Network Escape, Schaefer Franz, Burdine Rebecca D
Abstract excerpt
Renal hypodysplasia (RHD) is characterized by reduced kidney size and/or maldevelopment of the renal tissue following abnormal organogenesis. Mutations in renal developmental genes have been identified in a subset of affected individuals. Here, we report the first mutations in BMP4 and SIX2 identified in patients with RHD. We detected 3 BMP4 mutations in 5 RHD patients, and 3 SIX2 mutations in 5 different RHD...
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