Article
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Journal of the American Society of Nephrology : JASN - 1 Sept 2014
Kohl Stefan, Hwang Daw-Yang, Dworschak Gabriel C, Hilger Alina C, Saisawat Pawaree, Vivante Asaf, Stajic Natasa, Bogdanovic Radovan, Reutter Heiko M, Kehinde Elijah O, Tasic Velibor, Hildebrandt Friedhelm
Abstract excerpt
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ESRD in the United States. Hitherto, mutations in 23 genes have been described as causing autosomal dominant isolated CAKUT in humans. However, >90% of cases of isolated CAKUT still remain without a molecular diagnosis. Here, we hypothesized that genes mutated in recessive mouse models with the specific...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.