Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
环状引导受体1的双等位基因致病变异与肾脏和泌尿道综合征性先天性异常相关
期刊:Kidney International
影响因子:12.6
doi:10.1016/j.kint.2022.01.028
Münch, Johannes; Engesser, Marie; Schönauer, Ria; Hamm, J Austin; Hartig, Christin; Hantmann, Elena; Akay, Gulsen; Pehlivan, Davut; Mitani, Tadahiro; Coban Akdemir, Zeynep; Tüysüz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura R; van Eerde, Albertien M; Smol, Thomas; Devisme, Louise; Franquet, Hélène; Attié-Bitach, Tania; Wagner, Timo; Bergmann, Carsten; Höhn, Anne Kathrin; Shril, Shirlee; Pollack, Ari; Wenger, Tara; Scott, Abbey A; Paolucci, Sarah; Buchan, Jillian; Gabriel, George C; Posey, Jennifer E; Lupski, James R; Petit, Florence; McCarthy, Andrew A; Pazour, Gregory J; Lo, Cecilia W; Popp, Bernt; Halbritter, Jan
