TY  - GEN
AU  - Murga-Eizagaechevarria,Nekane
AU  - Garcia-Barcina,Maria
AU  - Sarasola Diez,Esther
TI  - [Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]
SN  - 1579-2242
PY  - 2012///0320
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - DNA
KW  - Exons
KW  - Female
KW  - Heart Defects, Congenital
KW  - Heart Septal Defects, Atrial
KW  - Heterozygote
KW  - Humans
KW  - Lower Extremity Deformities, Congenital
KW  - Pedigree
KW  - Penetrance
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - T-Box Domain Proteins
KW  - Thumb
KW  - abnormalities
KW  - Upper Extremity Deformities, Congenital
N1  - Publication Type: Letter
UR  - https://doi.org/10.1016/j.recesp.2011.02.016
ER  -