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Article

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Andrologia - 1 Feb 2021

Hage Mirella, Drui Delphine, Francou Bruno, Mercier Sandra, Guiochon-Mantel Anne, Belaisch-Allart Joelle, Péréon Yann, Cazabat Laure, De Mazancourt Philippe, Raffin-Sanson Marie Laure

Abstract excerpt

Androgen receptor gene (AR) mutations are responsible for androgen insensitivity syndrome (AIS) presenting with a clinical phenotype that ranges from gynaecomastia and/ or infertility in mild AIS (MAIS) to complete testicular feminisation in complete AIS. We report a novel AR gene mutation in two unrelated adult patients with MAIS and we studied its functional impact using 3D modelling. Patient 1, referred for...

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PMID: 33108824
DOI: 10.1111/and.13865

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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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