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Article

A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017

Çakır Aydilek D, Turan Hande, Onay Hüseyin, Emir Haluk, Emre Senol, Comunoglu Nil, Ercan Oya, Evliyaoglu Olcay

Abstract excerpt

Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel...

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Source

Identifiers

PMID: 29332065
DOI: 10.1159/000485882

Genes

AMHR2
AMH

Variants

Provenance

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A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome.PMID 29332065Read ↗

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