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Article

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

Medical science monitor : international medical journal of experimental and clinical research - 1 May 2005

Rok Paulina, Kasprzyk-Obara Jolanta, Domańska-Pakieła Dorota, Jóźwiak Sergiusz

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. TSC is caused by mutations in either of two tumor suppressor genes: TSC1 or TSC2. The aim of this study was to analyze the clinical picture of TSC in patients with an...

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Source

Identifiers

PMID: 15874888

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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