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Article

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

Journal of endocrinological investigation - 1 Jun 2021

Unal E, Karakaya A A, Beştaş A, Yıldırım R, Taş F F, Onay H, Özkınay F, Haspolat Y K

Abstract excerpt

PURPOSE: Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. METHODS: A total of 11 cases...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33025551
DOI: 10.1007/s40618-020-01437-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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