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Article

Compound heterozygous mutations in TBPL2 were identified in an infertile woman with impaired ovarian folliculogenesis.

Journal of assisted reproduction and genetics - 1 Dec 2023

Du Tian, Li Meiling, Chen Li, Shao Yong, Wang Yichun, Wang Hui, Ma Jinzhao, Yao Bing

Abstract excerpt

OBJECTIVE: A 32-year-old female was diagnosed with unexplained primary infertility for 10 years. She had roughly normal basal hormone levels, but her basal follicle-stimulating hormone (FSH) levels were elevated. In addition, the level of anti-Mullerian hormone was within the normal range, and she had undergone two failed oocyte collection attempts. We aimed to investigate the genetic cause of female infertility...

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Identifiers

PMID: 37804378
DOI: 10.1007/s10815-023-02961-2
PMCID: PMC10656374

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