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Article

Variability of expression in tuberous sclerosis.

Journal of medical genetics - 1 Jan 1993

Northrup H, Wheless J W, Bertin T K, Lewis R A

Abstract excerpt

We present three families in whom a diagnosis of tuberous sclerosis is difficult to secure and we review published reports about similar cases. Tuberous sclerosis has been reported to affect as many as 1 in 9400 subjects in the population. The manifestations of this disease vary not only between...

Topics

Adolescent
Child
Diseases in Twins
Epilepsy
Female
Gene Expression
Genetic Counseling
Genetic Variation
Humans
Infant
Male
Middle Aged
Phenotype
Polycystic Kidney Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tuberous Sclerosis

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Identifiers

PMID: 8423606
DOI: 10.1136/jmg.30.1.41
PMCID: PMC1016232

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8423606-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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