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Article

Homozygous variants in SYCP2L cause premature ovarian insufficiency.

Journal of medical genetics - 1 Mar 2021

He Wen-Bin, Tan Chen, Zhang Ya-Xin, Meng Lan-Lan, Gong Fei, Lu Guang-Xiu, Lin Ge, Du Juan, Tan Yue-Qiu

Abstract excerpt

BACKGROUND: The genetic causes of the majority of cases of female infertility caused by premature ovarian insufficiency (POI) are unknown. OBJECTIVE: To identify the genetic causes of POI in 110 patients. METHODS: Whole-exome sequencing was performed on 110 patients with POI, and putative disease-causative variants were validated by Sanger sequencing. Bioinformatic and in vitro functional analyses were performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32303603
DOI: 10.1136/jmedgenet-2019-106789
PMCID: PMC7907585

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