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Article

Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.

Climacteric : the journal of the International Menopause Society - 1 Oct 2018

Chen B, Li L, Wang J, Zhou Y, Zhu J, Li T, Pan H, Liu B, Cao Y, Wang B

Abstract excerpt

OBJECTIVE: To investigate the genetic cause of non-syndromic ovarian dysfunction in a patient from a consanguineous family. METHODS: This study examined a patient with irregular menstrual cycles and abnormal oocytes. The patient had undergone irregular hormone replacement therapy over 3 years to adjust the menstrual cycle and improve ovarian function. Prior to ovarian stimulation in our hospital, 3 months of...

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Source

Identifiers

PMID: 29992832
DOI: 10.1080/13697137.2018.1467891

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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