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

M. M. Cohen

doi:10.1007/s002470050165

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

M. M. Cohen

Medicine

Medicine

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19 Citations (Scopus)

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.

Original language	English
Pages (from-to)	442-446
Number of pages	5
Journal	Pediatric Radiology
Volume	27
Issue number	5
DOIs	https://doi.org/10.1007/s002470050165
Publication status	Published - May 1997

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health
Radiology Nuclear Medicine and imaging

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title = "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.",

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N2 - 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.

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

Abstract

ASJC Scopus Subject Areas

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