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[胎盘硫酸酯酶缺乏症与性连锁隐性鱼鳞病。在两姐妹中发现的两例病例(作者译)]

[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)].

作者信息

Bedin M, Tanguy G, Cédard L, Cleophax J P, Lesne M, Blanchet-Bardon C, Briard M L

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1979;8(6):533-7.

PMID:548553
Abstract

The diagnosis of placental sulfatase deficiency was made at the same time in two sisters who were pregnant. This is the first case history reported of two women who were carriers of this abnormality and who were linked by parentage. The inborn error of metabolism was able to be found in its post-natal state in two of the sons of one of the women in the form of retention cutaneous ichthyosis of a sex-linked type.

摘要

两名怀孕的姐妹同时被诊断出患有胎盘硫酸酯酶缺乏症。这是首次报道的两例携带这种异常基因且有血缘关系的女性病例。其中一名女性的两个儿子出生后被发现患有性联鱼鳞病,这是这种先天性代谢缺陷的一种表现形式。

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