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Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological dysfunction, tendon xanthoma, and early onset cataract. The diagnosis is often missed and delayed as the patients do not manifest all the classical fea...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808070/ https://www.ncbi.nlm.nih.gov/pubmed/24174808 http://dx.doi.org/10.4103/0976-3147.116420 |