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De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome
CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been s...
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| Опубликовано в: : | Genomics Insights |
|---|---|
| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
SAGE Publications
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6446253/ https://ncbi.nlm.nih.gov/pubmed/31043788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1178631019839010 |
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