2002
DOI: 10.1210/jcem.87.3.8329
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Twode NovoMutations in the AR Gene Cause the Complete Androgen Insensitivity Syndrome in a Pair of Monozygotic Twins

Abstract: The androgen insensitivity syndrome (AIS) is the most common cause of male undermasculinization and is typically caused by mutations in the AR gene. Affected individuals may exhibit either complete external feminization (complete AIS) or a partial phenotype (partial AIS). Here we describe monozygotic twins diagnosed with complete AIS who each possess two substitutions (C-->G at position 2930 and T-->C at position 2955, both in exon 7), leading to Phe(856)Leu and Ser(865)Pro mutations, respectively. Neither par… Show more

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Cited by 14 publications
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