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Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
BACKGROUND: CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7, which has been estimated to occur in 1:10,000 births worldwide. It is a genetic disorder closely resembles other pattern of anomalies. Genetic...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020284/ https://www.ncbi.nlm.nih.gov/pubmed/29945602 http://dx.doi.org/10.1186/s12887-018-1181-0 |