| http://purl.uniprot.org/citations/10861678 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10861678 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10861678 | http://www.w3.org/2000/01/rdf-schema#comment | "We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.org/dc/terms/identifier | "doi:10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u"xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.org/dc/terms/identifier | "doi:10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u"xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Kumar P."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Kumar P."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Flanagan S."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Flanagan S."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Roscioli T."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Roscioli T."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Glass I.A."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Glass I.A."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Masel J."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Masel J."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Gattas M."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Gattas M."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Hyland V.J."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/author | "Hyland V.J."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/pages | "22-28"xsd:string |
| http://purl.uniprot.org/citations/10861678 | http://purl.uniprot.org/core/pages | "22-28"xsd:string |