RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/1433226http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1433226http://www.w3.org/2000/01/rdf-schema#comment"Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis syndromes. Results of molecular genetic linkage studies provide evidence for localisation of the gene responsible to distal chromosome 7p."xsd:string
http://purl.uniprot.org/citations/1433226http://purl.org/dc/terms/identifier"doi:10.1136/jmg.29.10.681"xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/author"Brueton L.A."xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/author"Winter R.M."xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/author"van Herwerden L."xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/author"Chotai K.A."xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/date"1992"xsd:gYear
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/name"J Med Genet"xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/pages"681-685"xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/title"The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p."xsd:string
http://purl.uniprot.org/citations/1433226http://purl.uniprot.org/core/volume"29"xsd:string
http://purl.uniprot.org/citations/1433226http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/1433226
http://purl.uniprot.org/citations/1433226http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/1433226
http://purl.uniprot.org/uniprot/#_O95573-mappedCitation-1433226http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/1433226
http://purl.uniprot.org/uniprot/O95573http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/1433226