Publication: The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome
The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome
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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. M., Lin, R. C., Seidman, C. E., Seidman, J. G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C. E., & Jorde, L. B. (1999). The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome. American Journal of Human Genetics, 64, 1550–1562. https://doi.org/10.1086/302417
Abstract
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Abstract
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 outside the T-box was found among TBX3 and its orthologues. The subsequent cloning of new TBX3 cDNAs allowed us to complete th
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- Bamshad, Michael
- Le, T
- Watkins, W S
- Dixon, M E
- Kramer, B E
- Roeder, A D
- Carey, J C
- Root, S
- Schinzel, Albert
- Van Maldergem, Lionel
- Wallerstein, R
- Moran, E
- Jorde, L B
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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. M., Lin, R. C., Seidman, C. E., Seidman, J. G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C. E., & Jorde, L. B. (1999). The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome. American Journal of Human Genetics, 64, 1550–1562. https://doi.org/10.1086/302417
