Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

doi:10.1136/jmg.27.7.418

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Article

Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

Journal of medical genetics - 1 Jul 1990

Winship I M, Connor J M, Beighton P H

Abstract excerpt

There is increasing evidence for genetic heterogeneity in tuberous sclerosis (TSC) on the basis of linkage analysis in affected kindreds. We have performed a detailed assessment of an affected South African family in which there is no evidence of linkage to chromosome 9 markers. The affected pers...

Topics

Female
Genetic Variation
Humans
Male
Pedigree
Phenotype
Pigmentation Disorders
Tuberous Sclerosis

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