Article
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Orphanet journal of rare diseases - 10 Dec 2014
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
Abstract excerpt
BACKGROUND: Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500). All three are X-linked recessively inherited and males affected display variable degree of...
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