Diagnosis and management of tuberous sclerosis complex.

doi:10.1016/s1071-9091(98)80004-1

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Article

Diagnosis and management of tuberous sclerosis complex.

Seminars in pediatric neurology - 1 Dec 1998

Franz D N

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder with a high spontaneous mutation rate. Understanding of this disorder has greatly increased in recent years. Two chromosomal loci can produce the TSC phenotype: 9q34 and 16p13. These appear to code for proteins that...

Topics

Brain
Child
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 9
Diagnostic Imaging
Genes, Dominant
Genes, Tumor Suppressor
Genetic Predisposition to Disease
Humans
Phenotype
Tuberous Sclerosis

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