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Article

Phenotypic variation of tuberous sclerosis in a single extended kindred.

Journal of medical genetics - 1 Oct 1994

Smalley S L, Burger F, Smith M

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a great degree of phenotypic variability. Given the presence of two gene loci underlying this disorder, locus heterogeneity may account for some of the variability. However, significant within family variation suggests that different genes do not explain the majority of this variation. The purpose of this research is to identify physical and...

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Source

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Identifiers

PMID: 7837252
DOI: 10.1136/jmg.31.10.761
PMCID: PMC1050122

Genes

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.

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Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.Semantic proximity Read ↗

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Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.Semantic proximity Read ↗

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