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Article

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.

Molecular medicine reports - 1 Feb 2022

Mei Libin, Huang Lingling, Huang Yanru, Wu Xiaoling, He Huang, He Xuemei, Su Zhiying, Li Ping

Abstract excerpt

Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. POI is one of the most common reproductive endocrine diseases in women of childbearing age. The present study investigated the clinical manifestations and genetic features of a Chinese patient affected by POI. Next‑generation whole‑exome capture sequencing with...

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PMID: 34878148
DOI: 10.3892/mmr.2021.12561

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