title: De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.
authors.affiliation: Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
authors.forename: Gabor
authors.initials: G
authors.lastname: Matyas
authors.forename: Paulina
authors.initials: P
authors.lastname: Naef
authors.forename: Martin
authors.initials: M
authors.lastname: Tollens
authors.forename: Konrad
authors.initials: K
authors.lastname: Oexle
mesh_terms: D000818:Animals; D001176:Arthrogryposis / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D053782:Transforming Growth Factor beta3 / Q000235:genetics*
chemical_list: D053782:Transforming Growth Factor beta3