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Article

Persistent Mullerian duct syndrome caused by both a 27‐bp deletion and a novel splice mutation in the MIS type II receptor gene

1 Oct 2003

Abstract excerpt

BACKGROUND: Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism that is characterized by the persistence of Mullerian derivatives in otherwise normally virilized males. Mutations of the Mullerian inhibiting substance (MIS) gene or the MIS type II receptor (MISRII) gene have been identified in PMDS patients with autosomal recessive transmission. We analyzed a compound...

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PMID: 14745940
DOI: 10.1002/bdra.10091

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