Article
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.
American journal of human genetics - 1 Jun 1999
Bamshad M, Le T, Watkins W S, Dixon M E, Kramer B E, Roeder A D, Carey J C, Root S, Schinzel A, Van Maldergem L, Gardner R J, Lin R C, Seidman C E, Seidman J G, Wallerstein R, Moran E, Sutphen R, Campbell C E, Jorde L B
Abstract excerpt
Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the DNA-binding domain of the T-box gene, TBX3, have been demonstrated to cause UMS. However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS. Furthermore, no substantial homology...
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