[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier].

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

1579-2242

10.1016/j.recesp.2011.02.016 doi


Abnormalities, Multiple--genetics
Adolescent
DNA--genetics
Exons--genetics
Female
Heart Defects, Congenital--genetics
Heart Septal Defects, Atrial--genetics
Heterozygote
Humans
Lower Extremity Deformities, Congenital--genetics
Pedigree
Penetrance
Phenotype
Polymerase Chain Reaction
T-Box Domain Proteins--genetics
Thumb--abnormalities
Upper Extremity Deformities, Congenital--genetics