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Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majo...
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| Main Authors: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Hindawi Publishing Corporation
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4212645/ https://ncbi.nlm.nih.gov/pubmed/25379297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/517091 |
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