Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
Abstract 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....
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-06-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12887-018-1181-0 |