KAUFMAN OCULOCEREBROFACIAL SYNDROME - CASE-REPORT

被引：13

作者：

JURENKA, SB

EVANS, J

机构：

[1] UNIV MANITOBA,DEPT PAEDIAT,WINNIPEG R3T 2N2,MANITOBA,CANADA

[2] UNIV MANITOBA,DEPT GENET,WINNIPEG R3T 2N2,MANITOBA,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 3卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320030106

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

The oculocerebrofacial syndrome was described from siblings of both sexes in 1971 by Kaufman. A 12-year-old child with a set of corresponding malformations is described. This would suggest that the original report did not describe a private" syndrome."

引用

页码：15 / 19

页数：5