| http://purl.uniprot.org/citations/25333065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25333065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25333065 | http://www.w3.org/2000/01/rdf-schema#comment | "Nonsense mutations in FGF16 have recently been linked to X-linked recessive hand malformations with fusion between the fourth and the fifth metacarpals and hypoplasia of the fifth digit (MF4; MIM#309630). The purpose of this study was to perform careful clinical phenotyping and to define molecular mechanisms behind X-linked recessive MF4 in three unrelated families. We performed whole-exome sequencing, and identified three novel mutations in FGF16. The functional impact of FGF16 loss was further studied using morpholino-based suppression of fgf16 in zebrafish. In addition, clinical investigations revealed reduced penetrance and variable expressivity of the MF4 phenotype. Cardiac disorders, including myocardial infarction and atrial fibrillation followed the X-linked FGF16 mutated trait in one large family. Our findings establish that a mutation in exon 1, 2 or 3 of FGF16 results in X-linked recessive MF4 and expand the phenotypic spectrum of FGF16 mutations to include a possible correlation with heart disease."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.org/dc/terms/identifier | "doi:10.1002/mgg3.81"xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.org/dc/terms/identifier | "doi:10.1002/mgg3.81"xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Nilsson D."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Nilsson D."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Pettersson M."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Pettersson M."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Ahituv N."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Ahituv N."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Anneren G."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Anneren G."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Nordgren A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Nordgren A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Grigelioniene G."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Grigelioniene G."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Lindstrand A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Lindstrand A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Nordenskjoeld A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Nordenskjoeld A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Maekitie O."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Maekitie O."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Cattini P.A."xsd:string |
| http://purl.uniprot.org/citations/25333065 | http://purl.uniprot.org/core/author | "Cattini P.A."xsd:string |