Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.

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作者： Weicheng,Chen ^[1] ; Feifei,Wang ^[1] ; Weijia,Zeng ^[2] ; Xinyan,Zhang ^[1] ; Libing,Shen ^[3] ; Yuan,Zhang ^[4] ; Xiangyu,Zhou ^[5]

作者单位： Obstetrics and Gynecology Hospital of Fudan University, Pediatric Cardiovascular Center at Children's Hospital of Fudan University, Fudan University Shanghai Medical College, Shanghai, 200011, China. ^[1] State Key Lab of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China. ^[2] International Human Phenome Institutes (IHPI), Shanghai, 200433, China. ^[3] Department of Assisted Reproduction, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, 201204, China. yzhang150515@163.com. ^[4] , Shanghai, China. yzhang150515@163.com. ^[5] Obstetrics and Gynecology Hospital of Fudan University, Pediatric Cardiovascular Center at Children's Hospital of Fudan University, Fudan University Shanghai Medical College, Shanghai, 200011, China. husq04@163.com. ^[6] Department of Assisted Reproduction, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, 201204, China. husq04@163.com. ^[7] , Shanghai, China. husq04@163.com. ^[8]

关键词 Ciliopathy Congenital heart disease Heterotaxy Neonatal cholestasis Nephronophthisis Recessive mutations Situs inversus TTC12 TTC21B