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...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2014-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |