The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy - Concepedia

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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

DOI Full Paper Access

38

Citations

20

References

2014

Year

Michela Robusto, Mingyan Fang, Rosanna Asselta, Pierangela Castorina, Stefano C. Previtali, Sonia Caccia, Elena Benzoni, Raimondo De Cristofaro, Cong Yu, Antonio Cesarani,

European Journal of Human Genetics

Genetic DisorderGeneticsPathologyMolecular GeneticsX-linked Hearing LossCochlear DevelopmentDisease Gene IdentificationPrps1-associated PhenotypesNeuropathologyMedicineMild Peripheral NeuropathyNeurogenetics

References

	Year	Citations

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