| http://purl.uniprot.org/citations/24736737 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24736737 | http://www.w3.org/2000/01/rdf-schema#comment | "TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2014.57"xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "Collet C."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "Arnaud E."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "Baujat G."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "Renier D."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "Daire V.C."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "Laplanche J.L."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/author | "di Rocco F."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/pages | "1413-1416"xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/title | "Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations."xsd:string |
| http://purl.uniprot.org/citations/24736737 | http://purl.uniprot.org/core/volume | "22"xsd:string |
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| http://purl.uniprot.org/uniprot/#_Q9NQY9-mappedCitation-24736737 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24736737 |