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Xeroderma Pigmentosum/De Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia
INTRODUCTION: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000305/ https://www.ncbi.nlm.nih.gov/pubmed/24803908 http://dx.doi.org/10.1159/000362115 |