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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities (including deafness) is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo m...
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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: |
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2918278/ https://ncbi.nlm.nih.gov/pubmed/20186815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33323 |
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