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Paper Details

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Orphanet J Rare Dis
28
2014
Arts Syndrome, CMTX5, DFN2, MIM 301835, MIM 304500, MIM 311070, PRPS1, PRPS1 syndromes, PRS, PRS deficiency, PRS-I, PRS-I deficiency syndromes, Phosphoribosyl pyrophosphate, Phosphoribosyl pyrophosphate synthetase (PRS) I, Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency, RP, X-linked Charcot-Marie-Tooth, X-linked non-syndromic sensorineural deafness, ataxia, central and peripheral neuropathy, chromosome, enzyme deficiency, hearing loss, leukocytes, mRNA, neurological and ophthalmological symptoms, neuropathy, optic atrophy, peripheral neuropathy, retinitis pigmentosa, retinopathy, wild type allele
Author NameAffiliation
Berta AlmogueraCenter for Applied Genomics, The Children's Hospital of Philadelphia
Yiran GuoCenter for Applied Genomics, The Children's Hospital of Philadelphia
Yiran GuoCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Brendan J KeatingCenter for Applied Genomics, The Children's Hospital of Philadelphia
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