A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F.
van der Ven AT, et al. Among authors: kobbe b.
PLoS One. 2018 Jan 19;13(1):e0191224. doi: 10.1371/journal.pone.0191224. eCollection 2018.
PLoS One. 2018.
PMID: 29351342
Free PMC article.