title: Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
authors.affiliation: MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
authors.forename: Udo
authors.initials: U
authors.lastname: Koehler
authors.affiliation: Institute for Human Genetics, Hannover Medical School, Hannover, Germany.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Pabst
authors.affiliation: 1] Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA [2] Department of Medical Sciences, Frank H Netter School of Medicine, Quinnipiac University, North Haven, CT, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pober
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: Beth
authors.initials: B
authors.lastname: Kozel
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D056426:Genetic Loci; D005820:Genetic Testing; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: C405493:GTF2IRD1 protein, human; D009124:Muscle Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1