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Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
1Division of Oral and Maxillofacial Pathology, Faculty of Dentistry and Department of Pediatrics, Faculty of Medicine, Dalhousie University Halifax, Nova Scotia, B3H 3J5, Canada.
Pediatric Radiology
|May 1, 1997
Abstract:
Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome. Much work remains to be done in unraveling the pathogenesis of these phenotypes.