Murga-Eizagaechevarria, Nekane [Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. [electronic resource] - Revista espanola de cardiologia Dec 2011 - 1225-6 p. digital Publication Type: Letter ISSN: 1579-2242 Standard No.: 10.1016/j.recesp.2011.02.016 doi Subjects--Topical Terms: Abnormalities, Multiple--geneticsAdolescentDNA--geneticsExons--geneticsFemaleHeart Defects, Congenital--geneticsHeart Septal Defects, Atrial--geneticsHeterozygoteHumansLower Extremity Deformities, Congenital--geneticsPedigreePenetrancePhenotypePolymerase Chain ReactionT-Box Domain Proteins--geneticsThumb--abnormalitiesUpper Extremity Deformities, Congenital--genetics