Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N.... (2024). Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. https://doi.org/10.1038/s41525-024-00398-9

@article{paper38429302, title={ Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. }, author={ Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A, TUDP consortium, Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. }, journal={ NPJ Genom Med }, year={ 2024 }, doi={ 10.1038/s41525-024-00398-9 }, pmid={ 38429302 } }