title: Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital Brugmann, Brussels, Belgium; Department of Obstetrics, Gynecology and Urologic Sciences, Sapienza University, Umberto I Hospital, Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: D'Ambrosio
authors.forename: Carmela
authors.initials: C
authors.lastname: Votino
authors.forename: Teresa
authors.initials: T
authors.lastname: Cos
authors.forename: Sebastien
authors.initials: S
authors.lastname: Boulanger
authors.forename: Annelies
authors.initials: A
authors.lastname: Dheedene
authors.forename: Jacques
authors.initials: J
authors.lastname: Jani
authors.forename: Kathelijn
authors.initials: K
authors.lastname: Keymolen
mesh_terms: D000328:Adult; D001483:Base Sequence; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011506:Proteins / Q000235:genetics*
chemical_list: C406058:EVC protein, human; C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins