title: Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.
authors.affiliation: aDepartment of Medical Genetics, Dr Faruk Sükan Maternity and Pediatric Hospital, Konya bDepartment of Medical Genetics, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey.
authors.forename: Hatice
authors.initials: H
authors.lastname: Koçak Eker
authors.forename: Umut
authors.initials: U
authors.lastname: Altunoglu
authors.forename: Güven
authors.initials: G
authors.lastname: Toksoy
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D020825:T-Box Domain Proteins / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5