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Article

[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases].

Orvosi hetilap - 1 Jul 2017

Kövesdi Erzsébet, Bene Judit, Nagy Nikoletta, Horváth Ágnes, Melegh Béla, Hadzsiev Kinga

Abstract excerpt

Tuberous sclerosis complex is a rare disease with high phenotypic heterogeneity, characterized by the appearance of multiplex hamartomas in the different organs. The disease is inherited by autosomal dominant manner, due to the mutations of two genes: the TSC1 or the TSC2. In this publication we present the cases of two young male and two middle-aged female patients, where pathogenetic differences of TSC1/TSC2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28737457
DOI: 10.1556/650.2017.30789

Genes

TSC2
TSC1

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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