Ophthalmic Sequelae of Crouzon Syndrome
β Scribed by Timothy L. Gray; Theresa Casey; Dinesh Selva; Peter J. Anderson; David J. David
- Book ID
- 116803436
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 160 KB
- Volume
- 112
- Category
- Article
- ISSN
- 0161-6420
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Crouzon syndrome, one of the best known of many craniofacial syndromes, is an autosomal dominant disorder characterized by craniosynostosis, prominent eyes, and midfacial hypoplasia due to abnormal development and premature fusion of the skull. Recently mutations in the fibroblast growth factor rece
## Abstract Crouzon syndrome is an autosomalβdominant disorder that causes premature fusion of the cranial suture. Crouzon, Pfeiffer, and Apert syndromes are caused by mutations in the extracellular, third immunoglobulinβlike domain, and adjacent linker regions (exons IIIa and IIIc) of the fibrobla