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Non-penetrance in tuberous sclerosis.
Non-penetrance has not been reported in tuberous sclerosis when modern non-invasive investigations have been performed. We report a four generation family in which there was a subject with minimal expression and another with non-penetrance between a great grandfather and his great grandson. This sit...
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| Publicat a: | J Med Genet |
|---|---|
| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1991
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016911/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1870099/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.6.417 |
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