Article
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
Nature genetics - 1 Jul 1997
Bamshad M, Lin R C, Law D J, Watkins W C, Krakowiak P A, Moore M E, Franceschini P, Lala R, Holmes L B, Gebuhr T C, Bruneau B G, Schinzel A, Seidman J G, Seidman C E, Jorde L B
Abstract excerpt
Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a spli...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Apocrine Glands
- Arm
- Base Sequence
- Breast
- Chromosomes, Human, Pair 12
- DNA Mutational Analysis
- Female
- Gene Expression Regulation, Developmental
- Genitalia