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http://purl.uniprot.org/citations/25454926http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25454926http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25454926http://www.w3.org/2000/01/rdf-schema#comment"Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.org/dc/terms/identifier"doi:10.1016/j.jpeds.2014.10.015"xsd:string
http://purl.uniprot.org/citations/25454926http://purl.org/dc/terms/identifier"doi:10.1016/j.jpeds.2014.10.015"xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Yamaguchi Y."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Yamaguchi Y."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Kosaki K."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Kosaki K."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Takenouchi T."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Takenouchi T."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Okano H."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Okano H."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Kosaki R."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Kosaki R."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Tanikawa A."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/author"Tanikawa A."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/name"J. Pediatr."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/name"J. Pediatr."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/pages"483-486"xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/pages"483-486"xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/title"Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation."xsd:string
http://purl.uniprot.org/citations/25454926http://purl.uniprot.org/core/title"Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation."xsd:string