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22q and two: 22q11.2 deletion syndrome and coexisting conditions
22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000–4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6467269/ https://ncbi.nlm.nih.gov/pubmed/30244528 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40494 |
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