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Article

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific reports - 18 Jun 2020

Rosengren Thomas, Nanhoe Santoesha, de Almeida Luis Gustavo Dufner, Schönewolf-Greulich Bitten, Larsen Lasse Jonsgaard, Hey Caroline Amalie Brunbjerg, Dunø Morten, Ek Jakob, Risom Lotte, Nellist Mark, Møller Lisbeth Birk

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in the skin and other organs, including brain, heart, lung, kidney and bones. TSC is caused by mutations in TSC1 and TSC2. Here, we present the TSC1 and TSC2 variants identified in 168 Danish individuals out of a cohort of 327 individuals suspected of TSC. A total of 137 predicted pathogenic or likely pathogenic...

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Identifiers

PMID: 32555378
DOI: 10.1038/s41598-020-66588-4
PMCID: PMC7303179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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