caa a22 4500 477068359 CHVBK 20180405111418.0 cr unu---uuuuu 170330e19960501xx s 000 0 eng 10.1007/BF02751527 doi (NATIONALLICENCE)springer-10.1007/BF02751527 Wilkie Andrew Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK aut Fibroblast growth factor receptor mutations and craniosynostosis: Three receptors, five syndromes [Elektronische Daten] [Andrew Wilkie] 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. Dr. K C Chaudhuri Foundation, 1996 Craniosynostosis nationallicence FGFR nationallicence Apert nationallicence Crouzon nationallicence Pfeiffer nationallicence The Indian Journal of Pediatrics Springer India 63/3(1996-05-01), 351-356 0019-5456 63:3<351 1996 63 12098 https://doi.org/10.1007/BF02751527 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02751527 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Wilkie Andrew Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK aut NATIONALLICENCE 773 0- The Indian Journal of Pediatrics Springer India 63/3(1996-05-01), 351-356 0019-5456 63:3<351 1996 63 12098 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer