Non-penetrance in tuberous sclerosis
Non-penetrance in tuberous sclerosis
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DOI：
10.1016/s0140-6736(00)02247-9
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发表时间：
2000-05-13
期刊：
影响因子：
168.9
通讯作者：
Povey, S
中科院分区：
文献类型：
--
作者：
Osborne, JP;Jones, AC;Povey, S
由于结节性硬化症的极端临床变异性，有一个充分记录的非特异性病例，结节性硬化症患者的表型正常的兄弟姐妹或子女被认为具有增加的患该病的风险。我们报告的情况下，明显的非-abnormal-trance，这是以前描述的结果，两个独立的结节性硬化症突变在同一个家庭。
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.