| http://purl.uniprot.org/citations/9693549 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9693549 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9693549 | http://www.w3.org/2000/01/rdf-schema#comment | "For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth factor receptors (FGFRs) have been described. These substitutions arise mainly in the FGFR-2 gene and to a much lesser degree in the FGFR-1 and FGFR-3 genes. We present a patient with an apparently sporadic type of Pfeiffer's syndrome, exhibiting nearly all associated features of this syndrome. A mutation in the FGFR-2 gene was found, namely serine351-cysteine. This mutation has been reported in only one patient so far, whose phenotype could match both Crouzon's and Pfeiffer's syndromes."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.org/dc/terms/identifier | "doi:10.1097/00001665-199805000-00004"xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.org/dc/terms/identifier | "doi:10.1097/00001665-199805000-00004"xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Hoogeboom A.J."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Hoogeboom A.J."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "van den Ouweland A.M.W."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "van den Ouweland A.M.W."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Hesseling-Janssen A.L.W."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Hesseling-Janssen A.L.W."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Mathijssen I.M."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Mathijssen I.M."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Vaandrager J.M."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/author | "Vaandrager J.M."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/name | "J. Craniofac. Surg."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/name | "J. Craniofac. Surg."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/pages | "207-209"xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/pages | "207-209"xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/title | "Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/title | "Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene."xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/9693549 | http://purl.uniprot.org/core/volume | "9"xsd:string |