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...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Book |
| Published: |
Korean Pediatric Society,
2010-07-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|