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Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy
The partial trisomy 13q.22 is an uncommon chromosomopathy. We present a case with a partial trisomic component 13q22 and a monosomic component 5p15 from paternal origin. This patient developed early menopause and major neurological disorders as leukoencephalopathy, late onset generalised epilepsy an...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2008
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2391148/ https://ncbi.nlm.nih.gov/pubmed/18471271 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-7682-1-5 |
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