van der Ven, A., Kobbe, B., Kohl, S., Shril, S., Pogoda, H., Imhof, T., … Hildebrandt, F. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PloS One, 13(1), e0191224. https://doi.org/10.1371/journal.pone.0191224 (Original work published 2018)

Fearn, A., Allison, B., Rice, S., Edwards, N., Halbritter, J., Bourgeois, S., … Werner, A. (2018). Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiological Reports, 6(12), e13715. https://doi.org/10.14814/phy2.13715