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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
BACKGROUND: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofaci...
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| Asıl Yazarlar: | , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2009
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2700091/ https://ncbi.nlm.nih.gov/pubmed/19490635 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-48 |
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