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http://purl.uniprot.org/citations/11173846http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11173846http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11173846http://www.w3.org/2000/01/rdf-schema#comment"Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.org/dc/terms/identifier"doi:10.1159/000056834"xsd:string
http://purl.uniprot.org/citations/11173846http://purl.org/dc/terms/identifier"doi:10.1159/000056834"xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Grimm T."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Grimm T."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Kress W."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Kress W."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Collmann H."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Collmann H."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Petersen B."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/author"Petersen B."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/name"Cytogenet. Cell Genet."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/name"Cytogenet. Cell Genet."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/pages"138-140"xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/pages"138-140"xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/title"An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/title"An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly."xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/volume"91"xsd:string
http://purl.uniprot.org/citations/11173846http://purl.uniprot.org/core/volume"91"xsd:string
http://purl.uniprot.org/citations/11173846http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11173846
http://purl.uniprot.org/citations/11173846http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11173846