Litcius/Paper detail

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Johannes Münch, Marie Engesser, Ria Schönauer, J. Austin Hamm, Christin Hartig, Elena Hantmann, Gülsen Akay, Davut Pehli̇van, Tadahiro Mitani, Zeynep Coban‐Akdemir, Beyhan Tüysüz, Toshihiko Shirakawa, Sumito Dateki, Laura R. Claus, Albertien M. van Eerde, Thomas Smol, Louise Devisme, Hélène Franquet, Tania Attié‐Bitach, Timo Wagner, Carsten Bergmann, Anne Kathrin Höhn, Shirlee Shril, Ari H. Pollack, Tara Wenger, Abbey Scott, Sarah Paolucci, Jillian G. 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

2022Kidney International19 citationsDOIOpen Access PDF

Topics & Concepts

Vesicoureteral refluxKidney diseaseKidneyGenitourinary systemMissense mutationUrinary systemRenal agenesisKidney developmentMedicineBiologyPrune belly syndromePathologyGeneticsInternal medicineDiseaseMutationGeneEmbryonic stem cellRefluxAxon Guidance and Neuronal SignalingCongenital heart defects researchHippo pathway signaling and YAP/TAZ