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Article

Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency.

Clinical genetics - 1 Nov 2023

Zhang Jun, Zhou Xing-Yu, Wang Ao, Lai Yun-Hui, Zhang Xiao-Fei, Liu Xiao-Tong, Wang Zhe, Liu Yu-Dong, Tang Shu-Yan, Chen Shi-Ling

Abstract excerpt

Premature ovarian insufficiency (POI) is a clinical syndrome of ovarian dysfunction characterized by cessation of menstruation occurring before the age of 40 years. The genetic causes of idiopathic POI remain unclear. Here we recruited a POI patient from a consanguineous family to screen for potential pathogenic variants associated with POI. Genetic variants of the pedigree were screened using whole-exome...

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PMID: 37461298
DOI: 10.1111/cge.14403

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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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