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Article

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Journal of genetics - 1 Jun 2018

Glushkova M, Bojinova V, Koleva M, Dimova P, Bojidarova M, Litvinenko I, Todorov T, Iluca E, Calusaru C, Neagu E, Craiu D, Mitev V, Todorova A

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of hamartomas localized in various tissues which can occur in the skin, brain, kidney and other organs. TSC is caused by mutations in the TSC1 and TSC2 genes. Here we report the results from the first molecular testing of 16 Bulgarian patients and one Romanian patient in whom we found six novel mutations: four in...

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Source

Identifiers

PMID: 29932062

Genes

TSC1
TSC2

Provenance

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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