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Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

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第一作者： Giulio,Calcagni

第一单位： Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, Rome 00165, Italy. Electronic address: giulio.calcagni@opbg.net.

作者： Giulio,Calcagni ^[1] ; Rachele,Adorisio ^[2] ; Simone,Martinelli ^[3] ; Giorgia,Grutter ^[2] ; Anwar,Baban ^[2] ; Paolo,Versacci ^[4] ; Maria Cristina,Digilio ^[5] ; Fabrizio,Drago ^[2] ; Bruce D,Gelb ^[6] ; Marco,Tartaglia ^[5] ; Bruno,Marino ^[4]

作者单位： Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, Rome 00165, Italy. Electronic address: giulio.calcagni@opbg.net. ^[1] Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, Rome 00165, Italy. ^[2] Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, Rome 00161, Italy. ^[3] Pediatric Cardiology, Department of Pediatrics, Sapienza University, Viale Regina Elena 324, Rome 00161, Italy. ^[4] Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, Rome 00165, Italy. ^[5] Department of Pediatrics, Icahn School of Medicine at Mount Sinai, The Mindich Child Health and Development Institute, One Gustave Levy Place, Box 1042, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, The Mindich Child Health and Development Institute, One Gustave Levy Place, Box 1042, New York, NY 10029, USA. ^[6]

关键词 Congenital heart defect Costello syndrome Genotype-phenotype correlations Hypertrophic cardiomyopathy LEOPARD syndrome Noonan syndrome RAS signaling RASopathies

医学主题词心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);遗传标记(Genetic Markers);基因检测(Genetic Testing);人类(Humans);突变(Mutation);ras蛋白质类(ras Proteins)

DOI 10.1016/j.hfc.2017.12.005

PMID 29525650

发布时间 2018-12-02

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