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W2942877416 abstract "(The American Journal of Human Genetics 101, 789–802; November 2, 2017) In the version of this paper originally published, the author’s name Anna Materna-Kiryluk was incorrectly hyphenated. It appears correctly here and online. The authors apologize for this error. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSanna-Cherchi et al.The American Journal of Human GeneticsNovember 02, 2017In BriefRenal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse. Full-Text PDF Open Archive" @default.
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W2942877416 date "2017-12-01" @default.
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W2942877416 title "Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations" @default.
W2942877416 doi "https://doi.org/10.1016/j.ajhg.2017.11.003" @default.
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