Prenatal Prevalence and Postnatal Manifestations of 16p11.2 Deletions: a New Insights into Neurodevelopmental Disorders Based on Clinical Investigations Combined with Multi-omics Analysis
【作者】Lan Liu，Jiamin Wang，Xijing Liu，Jing Wang，Lin Chen，Hongmei Zhu，Jingqun Mai，Ting Hu，Shanling Liu
【作者单位】1Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China;2Medical College, Tibet University, Lhasa, Tibet, 850000, China;3Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, 610041, China;4Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
【摘要】 Background The 16p11.2 deletion is one of the most common genetic aetiologies of neurodevelopmental disorders . The prenatal phenotype of 16p11.2 deletion and the potential mechanism associated with postnatal clinical manifestations were largely unkn...
