title: Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
authors.affiliation: Institute of Human Genetics, Hannover Medical School, Hannover, Germany. arslan.mine@mh-hannover.de
authors.forename: Mine
authors.initials: M
authors.lastname: Arslan-Kirchner
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jondeau
authors.forename: Jörg
authors.initials: J
authors.lastname: Schmidtke
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012680:Sensitivity and Specificity
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; C000625841:TGFBR1 protein, human