医学
遗传分析
DNA测序
外显子组测序
遗传学
原发性闭经
遗传诊断
基因型
基因
基因检测
表型
生物信息学
内科学
生物
作者
Eren Er,Semih Aşıkovalı,Hatice Özışık,Elif Sağsak,Damla Gökşen,Hüseyin Önay,Füsun Saygılı,Şükran Darcan,Samim Özen
标识
DOI:10.20945/2359-4292-2022-0475
摘要
Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic primary ovarian insufficiency (POI) cases with the gene panel based on next generation sequencing analysis and to establish the relationship between genotype and phenotype. Subjects and methods: Twenty three cases aged 14-40 years followed up with POI were included. Patients with a karyotype of 46, XX, primary or secondary amenorrhea before the age of 40, with elevated FSH (>40 IU/mL) and low AMH levels [...]
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