Three independent mutations in the TSC2 gene in a family with tuberous sclerosis
✍ Scribed by Le Caignec, Cédric; Kwiatkowski, David J; Küry, Sébastien; Hardouin, Jean-Benoit; Melki, Judith; David, Albert
- Book ID
- 109849119
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 150 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by David W. Yandell Tuberous sclerosis complex (TSC) is a dominantly inherited multisystem disorder resulting in the development of hamartomatous growths in many organs. Genetic heterogeneity has been demonstrated linking the familial cases to either TSC1 at 9q34.3, or TSC2 at 16p1
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds of the cases are sporadic and appear to represent new mutations. With the cloning of two causative genes, TSC1 and TSC2 it is now possibl