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.
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Received: 27 November 1995 Accepted: 21 February 1996
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Cohen Jr., M. Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?. Pediatric Radiology 27, 442–446 (1997). https://doi.org/10.1007/s002470050165
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DOI: https://doi.org/10.1007/s002470050165