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Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOS

2 Apr 2023

Abstract excerpt

Recently, rare heterozygous AMH protein-altering variants were identified in women with polycystic ovary syndrome (PCOS), causing reduced anti-Müllerian hormone (AMH) signaling. However, the exact functional mechanism remains unknown. Here, we analyzed the processing, secretion, and signaling of these AMH variants. Functional analysis of six PCOS-specific AMH variants (V12G, P151S, P270S, P352S, P362S, H506Q) and...

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PMID: 37004205
DOI: 10.1093/molehr/gaad011

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