AUTOSOMAL DOMINANT INHERITANCE OF KLEIN-WAARDENBURG SYNDROME

被引：28

作者：

SHEFFER, R ^{[1
]}

ZLOTOGORA, J ^{[1
]}

机构：

[1] HEBREW UNIV JERUSALEM,HADASSAH MED CTR,DEPT HUMAN GENET,JERUSALEM,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 03期

关键词：

KLEIN-WAARDENBURG SYNDROME; JOINT CONTRACTURES; AUTOSOMAL DOMINANT INHERITANCE;

D O I：

10.1002/ajmg.1320420312

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 2 sibs with the Klein-Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein-Waardenburg syndrome is an autosomal dominant syndrome.

引用

页码：320 / 322

页数：3

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