title: Clinical utility gene card for: Cantú syndrome.
authors.affiliation: Dept of Medical Genetics, Sydney Children's Hospital, Randwick NSW, Australia.|School of Women's and Children's Health, University of New South Wales, Randwick NSW, Australia.
authors.forename: Edwin P
authors.initials: EP
authors.lastname: Kirk
authors.affiliation: Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Scurr
authors.affiliation: Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Gijs
authors.identifier: 0000-0003-3033-0329
authors.initials: G
authors.lastname: van Haaften
authors.affiliation: Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.|Department of Clinical Genetics, VU Medical Center, VU University Amsterdam, Amsterdam, The Netherlands.
authors.forename: Mieke M
authors.initials: MM
authors.lastname: van Haelst
authors.affiliation: Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Colin G
authors.initials: CG
authors.lastname: Nichols
authors.affiliation: Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
authors.forename: Maggie
authors.initials: M
authors.lastname: Williams
authors.affiliation: Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Smithson
authors.affiliation: Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
mesh_terms: D006332:Cardiomegaly / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D064233:Sulfonylurea Receptors / Q000235:genetics*
chemical_list: C577510:ABCC9 protein, human; C546860:KCNJ18 protein, human; D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors