The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy / Robusto, M; Fang, M; Asselta, R; Castorina, P; Previtali, S; Caccia, S; Benzoni, E; De Cristofaro, R; Yu, C; Cesarani, A; Liu, X; Li, W; Primignani, P; Ambrosetti, U; X, Xu; Duga, S; Soldà, G.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 23:6(2015), pp. 766-773. [10.1038/ejhg.2014.168]