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)

Résumé

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.

Langue d'origine	English
Pages (de-à)	442-446
Nombre de pages	5
Journal	Pediatric Radiology
Volume	27
Numéro de publication	5
DOI	https://doi.org/10.1007/s002470050165
Statut de publication	Published - mai 1997

ASJC Scopus Subject Areas

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

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10.1007/s002470050165

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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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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?

Résumé

ASJC Scopus Subject Areas

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