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Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Arra...
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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: |
Libertas Academica
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4179602/ https://ncbi.nlm.nih.gov/pubmed/25288895 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4137/CMPed.S18121 |
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