Article
Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 1 May 1991
Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard J Y
Abstract excerpt
The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives, uterus and tubes, in otherwise normally virilized males. In a previous study, we showed that this syndrome is heterogeneous, with lack of production of anti-Müllerian hormone (AMH) by testicular tissue accounting for only some, AMH-negative, cases of this disorder. We have characterized the point mutation...
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