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Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
PURPOSE: CHARGE syndrome is an autosomal dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding ATP-dependent Chromodomain Helicase DNA binding p...
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| Publicado no: | Genet Med |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6034995/ https://ncbi.nlm.nih.gov/pubmed/29300383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.233 |
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