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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...

Topics

Adolescent
Adult
Chromosome Mapping
Chromosomes, Human, Pair 16
Female
Genetic Variation
Humans
Interviews as Topic
Lod Score
Male
Mental Disorders
Neuropsychological Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Physical Examination

Tuberous Sclerosis

Source

Open in PubMed Open full text

Identifiers

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

Genes

TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7837252-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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