Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome - Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; et al. (European journal of human genetics : EJHG, 2009)
Keywords: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adapter proteins; Adolescent; Adult; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cardiology; Child; Cohort Studies; Cytogenetics; Diseases of the osteoarticular system; Female; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Genotypes; Giant Cells - pathology; Heart Diseases - congenital; Heart Diseases - pathology; Hospitals; Human Genetics; Humans; Jaw; Kinases; Leukemia; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; MAP kinase; MAP Kinase Signaling System - genetics; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation; Noonan Syndrome - diagnosis; Noonan Syndrome - genetics; Noonan Syndrome - pathology; Patients; Pediatrics; Phenotype; Phenotypes; ras Proteins - genetics; ras Proteins - metabolism; Signal transduction; Skin Diseases - pathology; Syndrome; Poland; Italy; Queensland Australia; Germany; RAS-MAPK signaling cascade; Noonan-like/multiple giant cell lesion syndrome; Noonan syndrome; cardio-facio-cutaneous syndrome; multiple giant cell lesions; Human; Skin disease; Nervous system diseases; Multiple; Cardio facio cutaneous syndrome; Enzyme; Transferases; Diseases of the osteoarticular system; Mitogen-activated protein kinase; Cardiovascular disease; Patient; Genetic disease; Giant cell; Noonan-like/ multiple giant cell lesion syndrome; Genetics; Lesion; Osteochondrodysplasia