Journal 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)
Anne Kosfeld; Martin Kreuzer; Christoph Daniel; Frank Brand; Anne-Kathrin Schäfer; Alexandra Chadt; Anna-Carina Weiss; Vera Riehmer; Cécile Jeanpierre; Michael Klintschar; Jan Hinrich Bräsen; Kerstin Amann; Lars Pape; Andreas Kispert; Hadi Al-Hasani; Dieter Haffner; Ruthild G. Weber
Human Genetics · Vol. 135, Issue 1 · pp. 69-87 · 2016