Placental sulphatase deficiency.
نویسنده
چکیده
INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,000 and 1: 10,000 males.
منابع مشابه
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ورودعنوان ژورنال:
- The Ulster Medical Journal
دوره 54 شماره
صفحات -
تاریخ انتشار 1985