Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
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.
Cohen
M M
MM
Division of Oral and Maxillofacial Pathology, Faculty of Dentistry and Department of Pediatrics, Faculty of Medicine, Dalhousie University Halifax, Nova Scotia, B3H 3J5, Canada.
D001848:Bone Diseases, Developmental / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor