A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

por van der Ven, Amelie T., Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M., Mann, Nina, Widmeier, Eugen, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor, Kehinde, Elijah O., Mane, Shrikant M., Lifton, Richard P., Soliman, Neveen, Lu, Weining, Bauer, Stuart B., Hammerschmidt, Matthias, Wagener, Raimund, Hildebrandt, Friedhelm
Publicado 2018