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X连锁慢性肉芽肿病的五名相关女性携带者的皮肤病

Dermatoses in five related female carriers of X-linked chronic granulomatous disease.

作者信息

Garioch J J, Sampson J R, Seywright M, Thomson J

机构信息

Department of Dermatology, Glasgow Royal Infirmary, Scotland, U.K.

出版信息

Br J Dermatol. 1989 Sep;121(3):391-6. doi: 10.1111/j.1365-2133.1989.tb01434.x.

DOI:10.1111/j.1365-2133.1989.tb01434.x
PMID:2803962
Abstract

Eight female members of a family with X-linked chronic granulomatous disease were identified. Five were shown to be carriers of the disease gene. Each of these female carriers of the gene had a history of skin eruptions. The identification of the carrier state is important as genetic counselling should be offered and the prenatal diagnosis of this disorder is possible.

摘要

一个患有X连锁慢性肉芽肿病的家族中有八名女性成员被确定。其中五名被证明是该疾病基因的携带者。这些基因携带者女性都有皮肤疹病史。确定携带者状态很重要,因为应该提供遗传咨询,而且这种疾病的产前诊断是可行的。

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