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Duplication 2p25 in a Child with Clinical Features of CHARGE Syndrome
CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear abnormalities including deafness and vestibular disorders. The majority of individuals with CHARGE have pathogenic variants in...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5117441/ https://ncbi.nlm.nih.gov/pubmed/26850571 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37592 |
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