Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?

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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Cohen MM Jr

doi

10.1007/s002470050165

subject

Has Abstract

pub_date

1997-05-01 00:00:00

pages

442-6

issue

5

eissn

0301-0449

issn

1432-1998

journal_volume

27

pub_type

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