Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency
Zhe Jing, De-sheng Ye, Xin Chen, Yudong Liu, Xingyu Zhou, Ying Li, Jun Zhang, Shiling Chen
Topics & Concepts
Premature ovarian insufficiencySanger sequencingProbandGeneticsBiologyExome sequencingMutationGenetic heterogeneityConsanguinityGenetic analysisGenetic counselingGeneExomeBioinformaticsMedicinePhenotypeInternal medicineGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesBRCA gene mutations in cancerGenetic Associations and Epidemiology