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Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a maternally inherited 15q11.2 microdeletion involving 4 genes, paternally inherited 13q12.2 microdeletion with 10 genes, and a de novo 2q14.3 duplication involving four genes. He h...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2014
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| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4190059/ https://ncbi.nlm.nih.gov/pubmed/25309804 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14082 |
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