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-Reference-Cited by-同舟云学术

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

Published:2014 Issue:1 Volume:9 Page:24
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Synofzik Matthis,Müller vom Hagen Jennifer,Haack Tobias B,Wilhelm Christian,Lindig Tobias,Beck-Wödl Stefanie,Nabuurs Sander B,van Kuilenburg André BP,de Brouwer Arjan PM,Schöls Ludger

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference15 articles.

1. Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

2. Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

3. Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

4. PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

5. Exome Sequencing Reveals a NovelPRPS1Mutation in a Family with CMTX5 without Optic Atrophy

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