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2019•Unpublished venueOpen access

Characteristic distribution of the skin lesions in Tuberous Sclerosis Complex.

Aya Takahashi, Mari Wataya‐Kaneda

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Abstract

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder, and results from mutations of either TSC1 or TSC2 gene. They encode hamartin and tuberin respectively and were discovered in the 1990s, improving the diagnosis of TSC. Either of these two gene mutations leads to constitutive activation of the mammalian target of rapamycin complex1 (mTORC1),

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What this paper is about

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder, and results from mutations of either TSC1 or TSC2 gene. They encode hamartin and tuberin respectively and were discovered in the 1990s, improving the diagnosis of TSC. Either of these two gene mutations leads to constitutive activation of the mammalian target of rapamycin complex1 (mTORC1),

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Available abstract

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder, and results from mutations of either TSC1 or TSC2 gene. They encode hamartin and tuberin respectively and were discovered in the 1990s, improving the diagnosis of TSC. Either of these two gene mutations leads to constitutive activation of the mammalian target of rapamycin complex1 (mTORC1),

Key concepts: Tuberous sclerosis, Distribution (mathematics), Medicine, Dermatology, Pathology, Mathematics, Mathematical analysis

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Characteristic distribution of the skin lesions in Tuberous Sclerosis Complex. — Research Paper | ScholarLens