title: Detection of a large TBX5 deletion in a family with Holt-Oram syndrome.
authors.forename: S M
authors.initials: SM
authors.lastname: Akrami
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: J D
authors.initials: JD
authors.lastname: Brook
authors.forename: J A
authors.initials: JA
authors.lastname: Armour
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5