Article
Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)
European journal of endocrinology - 1 Apr 1994
Lumbroso S, Lobaccaro J M, Belon C, Amram S, Bachelard B, Garandeau P, Sultan C
Abstract excerpt
In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. Direct sequencing showed a G-A point mutation at position 2818 of exon 7, which was responsible for an arginine-histidine substitution at position 840 of the androgen receptor. In this family, the proband's mother became pregnant and wished to know whether she was carrying an unaffected fetus....
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