title: Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.
abstract: Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRAS mutation who presents systemic lupus erythematosus.
authors.affiliation: Department of Clinical Genetics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. levent2669@gmail.com
authors.forename: G
authors.initials: G
authors.lastname: Leventopoulos
authors.forename: E
authors.initials: E
authors.lastname: Denayer
authors.forename: P
authors.initials: P
authors.lastname: Makrythanasis
authors.forename: C
authors.initials: C
authors.lastname: Papapolychroniou
authors.forename: H
authors.initials: H
authors.lastname: Fryssira
mesh_terms: D000293:Adolescent; D015897:Comorbidity; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009634:Noonan Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins / Q000235:genetics*
chemical_list: C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins