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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 but also within families. Currently no reliable method of prenatal diagnosis is available. For these reasons, subjects...

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Identifiers

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

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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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