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Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1
We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root and camptodactyly. Analysis of a dense whole genome SNP array showed a de novo 3.35Mb deletion on 2p15-p16.1. In order to study the parental or...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2946431/ https://ncbi.nlm.nih.gov/pubmed/20799320 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33612 |
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