Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
- 13 May 1997
- journal article
- review article
- Published by Springer Nature in Pediatric Radiology
- Vol. 27 (5) , 442-446
- https://doi.org/10.1007/s002470050165
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.Keywords
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