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Article

A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex.

BMC medical genetics - 11 Sept 2020

He Shunzhi, Lv Na, Bao Hongchu, Wang Xiong, Li Jing

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. CASE PRESENTATION: We reported a sporadic case of a 32-year-old Han Chinese male diagnosed with TSC, whose spouse had a history of two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32917147
DOI: 10.1186/s12881-020-01120-z
PMCID: PMC7488555

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