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Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome
CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations of the chromodomain helicase DNA-binding protein gene CHD7 are reported to be a majo...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3919485/ https://ncbi.nlm.nih.gov/pubmed/24550764 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000355431 |
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