title: Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
authors.affiliation: Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.
authors.forename: Wiktor
authors.initials: W
authors.lastname: Borozdin
authors.forename: Ana M
authors.initials: AM
authors.lastname: Bravo-Ferrer Acosta
authors.forename: Eva
authors.initials: E
authors.lastname: Seemanova
authors.forename: Michael
authors.initials: M
authors.lastname: Leipoldt
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bamshad
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; C511875:Rbm19 protein, human; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; C106884:TBX3 protein, human