结节性硬化症：一个非连锁显性基因对表型表达的可能修饰作用。
Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.
作者信息
Rushton A R, Shaywitz B A
出版信息
J Med Genet. 1979 Feb;16(1):32-5. doi: 10.1136/jmg.16.1.32.
Abstract
A unique pedigree is presented which shows tuberous sclerosis in three generations of a family, in which two heterozygotes for the mutant gene were found to be clinically asymptomatic. A genetic model is proposed to explain these findings based upon the segregation of a second unlinked autosomal dominant gene modifying the expression of the gene for tuberous sclerosis.
摘要
本文展示了一个独特的家系，该家系三代人患有结节性硬化症，其中发现两名突变基因杂合子临床无症状。基于第二个不连锁的常染色体显性基因的分离提出了一个遗传模型来解释这些发现，该基因可修饰结节性硬化症基因的表达。
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Familial occurrence of tuberous sclerosis.结节性硬化症的家族性发病情况。
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Genetic aspects of tuberous sclerosis in a Chinese population.中国人群结节性硬化症的遗传学特征
Am J Hum Genet. 1971 Jan;23(1):33-40.
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Carcinoma of breast and asymptomatic tuberous sclerosis.乳腺癌与无症状结节性硬化症
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