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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.

Original publication

DOI

10.1007/BF02751527

Type

Journal article

Journal

Indian J Pediatr

Publication Date

05/1996

Volume

63

Pages

351 - 356

Keywords

Craniosynostoses, Humans, India, Mutation, Receptors, Fibroblast Growth Factor, Research, Syndrome