| http://purl.uniprot.org/citations/23320472 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23320472 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23320472 | http://www.w3.org/2000/01/rdf-schema#comment | "Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12081"xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12081"xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Gilissen C."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Gilissen C."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Hoischen A."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Hoischen A."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Mohammed S."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Mohammed S."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Koolen D.A."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Koolen D.A."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Simpson M."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Simpson M."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Veltman J.A."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Veltman J.A."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Yntema H.G."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "Yntema H.G."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "de Vries B.B."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "de Vries B.B."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "van Bon B.W."xsd:string |
| http://purl.uniprot.org/citations/23320472 | http://purl.uniprot.org/core/author | "van Bon B.W."xsd:string |