Article
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.
European journal of medical genetics - 1 Jan 2000
Meneghini Vasco, Odent Sylvie, Platonova Natalia, Egeo Aliana, Merlo Giorgio R
Abstract excerpt
We describe a family affected by Ulnar-Mammary syndrome (UMS) in which typical UMS traits (hypoplasia of the breast and axillary hair, upper limbs and genital defects) are present together with cardiac malformations and pulmonary stenosis. Sequence analysis of TBX3 shows a new heterozygous mutati...
Topics
- DNA Mutational Analysis
- DNA-Binding Proteins
- Female
- Frameshift Mutation
- Genotype
- Humans
- Limb Deformities, Congenital
- Male
- Pedigree
- Phenotype
- Protein Structure, Tertiary
- Severity of Illness Index
- Syndrome
- T-Box Domain Proteins