Article
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Human genetics - 1 Jan 2016
Kosfeld Anne, Kreuzer Martin, Daniel Christoph, Brand Frank, Schäfer Anne-Kathrin, Chadt Alexandra, Weiss Anna-Carina, Riehmer Vera, Jeanpierre Cécile, Klintschar Michael, Bräsen Jan Hinrich, Amann Kerstin, Pape Lars, Kispert Andreas, Al-Hasani Hadi, Haffner Dieter, Weber Ruthild G
Abstract excerpt
Congenital anomalies of the kidneys and urinary tract (CAKUT) are genetically highly heterogeneous leaving most cases unclear after mutational analysis of the around 30 causative genes known so far. Assuming that phenotypes frequently showing dominant inheritance, such as CAKUT, can be caused by de novo mutations, de novo analysis of whole-exome sequencing data was done on two patient-parent-trios to identify...
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