Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex
β Scribed by Mi-Ae Jang; Seung Bong Hong; Jee Hun Lee; Mun Hyang Lee; Man Pyo Chung; Hyung-Jin Shin; Jong-Won Kim; Chang-Seok Ki
- Book ID
- 116826077
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 218 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0887-8994
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Tuberous sclerosis complex (TSC) is a severe autosomal-dominant disorder characterized by the development of benign tumors (hamartomas) in many organs. It can lead to intellectual handicap, epilepsy, autism, and renal or heart failure. An inactivating mutation in either of two tumor-suppressor genes
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
Chordomas are rare sacrococcygeal/sacral, sphenooccipital/clivus, and spinal tumors whose molecular etiology remains relatively understudied. As several anecdotal reports had described chordomas in individuals with tuberous sclerosis complex (TSC), a multisystem hamartoma syndrome, we hypothesized t