[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. [electronic resource]
Producer: 20120320Description: 1225-6 p. digitalISSN:- 1579-2242
- 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
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Publication Type: Letter
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