Biallelic Pathogenic Variants in Roundabout Guidance Receptor 1 Associate with Syndromic Congenital Anomalies of the Kidney and Urinary Tract.
Johannes Muench,Marie Engesser,Ria Schoenauer,J. Austin Hamm,Christin Hartig,Elena Hantmann,Gulsen Akay,Davut Pehlivan,Tadahiro Mitani,Zeynep Coban Akdemir,Beyhan Tuysuz,Toshihiko Shirakawa,Sumito Dateki,Laura R. Claus,Albertien M. van Eerde,Thomas Smol,Louise Devisme, Helene Franquet,Tania Attie-Bitach,Timo Wagner,Carsten Bergmann,Anne Kathrin Hoehn,Shirlee Shril,Ari Pollack,Tara Wenger,Abbey A. Scott,Sarah Paolucci,Jillian Buchan,George C. Gabriel,Jennifer E. Posey,James R. Lupski,Florence Petit,Andrew A. McCarthy,Gregory J. Pazour,Cecilia W. Lo,Bernt Popp,Jan Halbritter Kidney International（2022）
Key words
CAKUT,dysplastic kidneys,ROBO1,Slit-Robo signaling,VUR
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