AUTOSOMAL DOMINANT INHERITANCE OF SCALP DEFECTS WITH ECTRODACTYLY

被引:47
作者
BONAFEDE, RP [1 ]
BEIGHTON, P [1 ]
机构
[1] UNIV CAPE TOWN,SCH MED,DEPT HUMAN GENET,CAPE TOWN 7925,SOUTH AFRICA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 3卷 / 01期
关键词
D O I
10.1002/ajmg.1320030109
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.
引用
收藏
页码:35 / 41
页数:7
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