Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.-论文-万方医学网

第一作者： Deema,Aljeaid

第一单位： Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

作者： Deema,Aljeaid ^[1] ; Ana Isabel,Sanchez ^[2] ; Emily,Wakefield ^[1] ; Sarah E,Chadwell ^[3] ; Nicole,Moore ^[1] ; Carlos E,Prada ^[4] ; Wenying,Zhang ^[1]

作者单位： Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. ^[1] Department of Genetics Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. ^[2] Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia. ^[3] RASopathies Program, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. ^[4] Heart Institute Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. ^[5] Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. ^[6] Division de Genetica, Departamento de Pediatría, Hospital Internacional de Colombia, Bucaramanga, Colombia. ^[7] Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. ^[8]

主题词青少年(Adolescent);成年人(Adult);心肌疾病(Cardiomyopathies);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);基因检测(Genetic Testing);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);表型(Phenotype);患病率(Prevalence);蛋白质酪氨酸磷酸酶, 非受体11型(Protein Tyrosine Phosphatase, Non-Receptor Type 11);原癌基因蛋白质c-raf(Proto-Oncogene Proteins c-raf);原癌基因蛋白质类p21(ras)(Proto-Oncogene Proteins p21(ras));回顾性研究(Retrospective Studies);青年人(Young Adult);ras蛋白质类(ras Proteins)

DOI 10.1002/ajmg.a.61072

PMID 30762279

发布时间 2020-09-30

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Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

检索历史清除