Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.-论文-万方医学网

第一作者： Ning,Liu

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

作者： Ning,Liu ^[1] ; Kelly,Schoch ^[2] ; Xi,Luo ^[1] ; Loren D M,Pena ^[2] ; Venkata Hemanjani,Bhavana ^[1] ; Mary K,Kukolich ^[3] ; Sarah,Stringer ^[3] ; Zöe,Powis ^[4] ; Kelly,Radtke ^[4] ; Cameron,Mroske ^[4] ; Kristen L,Deak ^[5] ; Marie T,McDonald ^[2] ; Allyn,McConkie-Rosell ^[2] ; M Louise,Markert ^[6] ; Peter G,Kranz ^[7] ; Nicholas,Stong ^[8] ; Anna C,Need ^[9] ; David,Bick ^[10] ; Michelle D,Amaral ^[10] ; Elizabeth A,Worthey ^[10] ; Shawn,Levy ^[10] ; Undiagnosed Diseases Network (UDN) ^[11] ; Michael F,Wangler ^[12] ; Hugo J,Bellen ^[2] ; Vandana,Shashi ^[13] ; Shinya,Yamamoto

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ^[1] Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA. ^[2] Department of Genetics, Cook Children's Hospital, Fort Worth, TX, USA. ^[3] Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA. ^[4] Department of Pathology, Duke University, Durham, NC, USA. ^[5] Division of Allergy and Immunology, Department of Pediatrics, Duke Health, Durham, NC, USA. ^[6] Division of Neuroradiology, Department of Radiology, Duke Health, Durham, NC, USA. ^[7] Institute for Genomic Medicine, Columbia University, New York, NY, USA. ^[8] Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK. ^[9] HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA. ^[10] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.;Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA. ^[11] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.;Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.;Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.;Howard Hughes Medical Institute, Houston, TX, USA. ^[12] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.;Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.;Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA. ^[13]

医学主题词成年人(Adult);动物(Animals);心血管畸形(Cardiovascular Abnormalities);心血管系统(Cardiovascular System);儿童(Child);颅面骨畸形(Craniofacial Abnormalities);发育障碍(Developmental Disabilities);DiGeorge综合征(DiGeorge Syndrome);疾病模型, 动物(Disease Models, Animal);黑腹果蝇(Drosophila melanogaster);女(雌)性(Female);基因表达调控, 发育期(Gene Expression Regulation, Developmental);疾病遗传易感性(Genetic Predisposition to Disease);单倍剂量不足(Haploinsufficiency);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);小鼠(Mice);系谱(Pedigree);妊娠(Pregnancy);T盒域蛋白质类(T-Box Domain Proteins);青年人(Young Adult);斑马鱼(Zebrafish)

DOI 10.1093/hmg/ddy146

PMID 29726930

发布时间 2024-02-07

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Human molecular genetics

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Human molecular genetics

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Human molecular genetics

相似文献

同项目论文

Human molecular genetics

相关期刊

检索历史清除