Title of article
Non-penetrance in tuberous sclerosis Original Research Article
Author/Authors
JP Osborne، نويسنده , , AC Jones، نويسنده , , MW Burley، نويسنده , , D Jeganathan، نويسنده , , J Young، نويسنده , , FJ OʹCallaghan، نويسنده , , JR Sampson، نويسنده , , S Povey، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2000
Pages
1
From page
1698
To page
1698
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.
Journal title
The Lancet
Serial Year
2000
Journal title
The Lancet
Record number
551858
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