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Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.
Tuberous sclerosis (TS) results from an autosomal dominant gene which exhibits variable expression and reduced penetrance. Although there are well established diagnostic criteria for TS, examination of first degree relatives can cause diagnostic criteria for TS, examination of first degree relatives...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1989
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1015739/ https://ncbi.nlm.nih.gov/pubmed/2585469 |
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