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Article

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

European journal of pediatrics - 1 Jul 2002

Langkau Nicola, Martin Nicola, Brandt Regine, Zügge Karin, Quast Stefanie, Wiegele Gerd, Jauch Anna, Rehm Marion, Kuhl Andrea, Mack-Vetter Monika, Zimmerhackl Lothar Bernd, Janssen Bart

Abstract excerpt

UNLABELLED: Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2). Most de-novo patients show a mutation in TSC2, whereas only 50% of all familial cases can be related to TSC2 mutations....

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Source

Identifiers

PMID: 12111193
DOI: 10.1007/s00431-001-0903-7

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.PMID 12111193Read ↗

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Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Semantic proximity Read ↗

[From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex].Semantic proximity Read ↗

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.Semantic proximity Read ↗

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