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Non-penetrance in tuberous sclerosis
- Source :
- Lancet (London, England). 355(9216)
- Publication Year :
- 2000
-
Abstract
- As a result of extreme clinical variability in tuberous sclerosis, with one well-documented example of non-penetrance, phenotypically normal siblings or children of patients with tuberous sclerosis are thought to be at increased risk of having children with the disease. We report that the case of apparent non-penetrance that was previously described is the result of two independent tuberous-sclerosis mutations in the same family.
- Subjects :
- Male
medicine.medical_specialty
Pathology
Genetic Counseling
Penetrance
Disease
Risk Assessment
Tuberous sclerosis
Tuberous Sclerosis
Tuberous Sclerosis Complex 2 Protein
Medicine
Humans
business.industry
Tumor Suppressor Proteins
fungi
food and beverages
General Medicine
Exons
medicine.disease
Dermatology
Phenotype
Pedigree
Repressor Proteins
Increased risk
Mutation
Female
business
Subjects
Details
- ISSN :
- 01406736
- Volume :
- 355
- Issue :
- 9216
- Database :
- OpenAIRE
- Journal :
- Lancet (London, England)
- Accession number :
- edsair.doi.dedup.....7dd5f4392c922fef28fbf4fe27e90ca7