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17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome
BACKGROUND: Potocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders. CASE PRESENTATION: We describe a patient from Sri L...
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| Опубликовано в: : | BMC Res Notes |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4588678/ https://ncbi.nlm.nih.gov/pubmed/26419729 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-015-1439-7 |
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