A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the gene
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testin...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2010-07-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |