Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

Abstract:

:The post eighteen months have been exciting time for craniosynostosis research. In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weiss syndrome and thanatophoric dysplasia. These findings open many new avenues for craniosynostosis research including studies of diagnosis, pathogenesis, and mutagenesis. Here the major findings and their implications have been briefly reviewed.

journal_name

Indian J Pediatr

authors

Wilkie AO

doi

10.1007/BF02751527

keywords:

subject

Has Abstract

pub_date

1996-05-01 00:00:00

pages

351-6

issue

3

eissn

0019-5456

issn

0973-7693

journal_volume

63

pub_type

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