title: Clinical utility gene card for: Cornelia de Lange syndrome.
authors.affiliation: Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.|Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
authors.forename: Feliciano J
authors.initials: FJ
authors.lastname: Ramos
authors.affiliation: Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Puisac
authors.affiliation: Department of Paediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia.
authors.forename: Carolina
authors.initials: C
authors.lastname: Baquero-Montoya
authors.affiliation: Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
authors.forename: Ma Concepción
authors.initials: MC
authors.lastname: Gil-Rodríguez
authors.affiliation: Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
authors.forename: Inés
authors.initials: I
authors.lastname: Bueno
authors.affiliation: Department of Paediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.affiliation: Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
authors.affiliation: Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Kaiser
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
authors.affiliation: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Musio
authors.affiliation: Pediatric Genetic Clinic Unit, MBBM Foundation University of Milano Bicocca, San Gerardo Hospital, Monza, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.affiliation: MRC Human Genetics Unit - MRC IGMM, University of Edinburgh, Edinburgh, UK.
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
authors.affiliation: Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Pié
mesh_terms: D003635:De Lange Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics