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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...
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| Pubblicato in: | BMC Pediatr |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6020284/ https://ncbi.nlm.nih.gov/pubmed/29945602 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1181-0 |
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