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Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension
The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4066825/ https://ncbi.nlm.nih.gov/pubmed/24959202 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-36 |
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