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Case Report: Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and bilateral Achilles tendon xanthomas. She was tho...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Karandikar, Amit A, Pushparajan, S, Unni, Madhavan N, Srinivas, R
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Medknow Publications 2009
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2797749/
https://ncbi.nlm.nih.gov/pubmed/19881113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-3026.57218
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