| http://purl.uniprot.org/citations/19953625 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19953625 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19953625 | http://www.w3.org/2000/01/rdf-schema#comment | "Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1. We performed SOS1, RAF1, BRAF, MEK1, and MEK2 mutation analysis in a cohort of 102 PTPN11- and KRAS-negative NS patients and found pathogenic SOS1 mutations in 10, RAF1 mutations in 4, and BRAF mutations in 2 patients. Three novel SOS1 mutations were found. One was classified as a rare benign variant and the other remains unclassified. We confirm a high prevalence of pulmonic stenosis and ectodermal abnormalities in SOS1-positive patients. Three patients with SOS1 mutations presented with tumors (embryonal rhabdomyosarcoma, Sertoli cell testis tumor, and granular cell tumors of the skin). One patient with a RAF1 mutation had a lesion suggestive for a giant cell tumor. This is the first report describing different tumor types in NS patients with germ line SOS1 mutations."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.org/dc/terms/identifier | "doi:10.1002/gcc.20735"xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.org/dc/terms/identifier | "doi:10.1002/gcc.20735"xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Sciot R."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Sciot R."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Kayserili H."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Kayserili H."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Fryns J.P."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Fryns J.P."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Massa G."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Massa G."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Legius E."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Legius E."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "de Ravel T."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "de Ravel T."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Smeets E."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Smeets E."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Sznajer Y."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Sznajer Y."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Francois I."xsd:string |
| http://purl.uniprot.org/citations/19953625 | http://purl.uniprot.org/core/author | "Francois I."xsd:string |