The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, uniqu...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2018-12-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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