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

Michela Robusto, Mingyan Fang, Rosanna Asselta, Pierangela Castorina, Stefano C. Previtali, Sonia Caccia, Elena Benzoni, Raimondo De Cristofaro, Cong Yu, Antonio Cesarani, Xuanzhu Liu, Wangsheng Li, Paola Primignani, Umberto Ambrosetti, Xun Xu, Stefano Duga, Giulia Soldà

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Medicine & Life Sciences