TUBEROUS SCLEROSIS - POSSIBLE MODIFICATION OF PHENOTYPIC EXPRESSION BY AN UNLINKED DOMINANT GENE

被引：14

作者：

RUSHTON, AR

SHAYWITZ, BA

机构：

[1] YALE UNIV,SCH MED,DEPT NEUROL,NEW HAVEN,CT 06520

[2] YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT 06520

来源：

JOURNAL OF MEDICAL GENETICS | 1979年 / 16卷 / 01期

关键词：

D O I：

10.1136/jmg.16.1.32

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：32 / 35

页数：4

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