Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Bibliographic Details
Main Authors: Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Format: Online
Language:English
Published: BioMed Central 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272780/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272780/

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