Disease burden and management of Crigler-Najjar syndrome: Report of a world registry

by Aronson, S.J, Baumann, U., Beuers, U., Bosma, P.J, Brigatti, K.W, Brunetti-Pierri, N., CureCN Consortium, D'Antiga, L., de Knegt, R.J, Di Giorgio, A., El-Shabrawi, M.H.F, Escher, J.C, Fox, M.D, Ginocchio, V.M, Hubert, A., Iorio, R., Junge, N., Kelmemi, W., Labrune, P., Mingozzi, F., Mrad, R., Özçay, F., Rahim, F., Shteyer, E., Strauss, K.A, Trabelsi, M., Zhu, Y.
Published 2022

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

by Jinks, R.N, Puffenberger, E.G, Baple, E., Harding, B., Crino, P., Fogo, A.B, Wenger, O., Xin, B., Koehler, A.E, McGlincy, M.H, Provencher, M.M, Smith, J.D, Tran, L., Al Turki, S., Chioza, B. A., Cross, H., Harlalka, G. V., Hurles, M. E., Maroofian, R., Heaps, A. D., Morton, M. C., Stempak, L., Hildebrandt, F., Sadowski, C. E., Zaritsky, J., Campellone, K., Morton, D. H., Wang, H., Crosby, A., Strauss, K. A.
Published 2015