Identification of a novel mutation in the gene in a patient with CHARGE syndrome
CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choan...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2014-01-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-46.pdf |