title: RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.
authors.affiliation: aYorkshire Regional Genetics Service, Chapel Allerton Hospital bDepartment of Neuroradiology, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, UK cLaboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, Massachusetts, USA.
authors.forename: Verity L
authors.initials: VL
authors.lastname: Hartill
authors.forename: Mitchell W
authors.initials: MW
authors.lastname: Dillon
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Warren
authors.forename: Moira
authors.initials: M
authors.lastname: Blyth
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities / Q000000981:diagnostic imaging; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006408:Hematoma, Subdural / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D019908:Proto-Oncogene Proteins c-raf / Q000235:genetics*; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: D019908:Proto-Oncogene Proteins c-raf; C000627598:Raf1 protein, human