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New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features o...
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| Publicado no: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6591023/ https://ncbi.nlm.nih.gov/pubmed/29171162 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31592 |
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