title: [Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier].
authors.forename: Nekane
authors.initials: N
authors.lastname: Murga-Eizagaechevarria
authors.forename: Maria
authors.initials: M
authors.lastname: Garcia-Barcina
authors.forename: Esther
authors.initials: E
authors.lastname: Sarasola Diez
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology*; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020825:T-Box Domain Proteins / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics* / Q000473:pathology*
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; D004247:DNA