PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.
PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.
PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.
PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.
PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.