Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.

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第一作者： Norifumi,Takeda

第一单位： Department of Cardiovascular Medicine (N.T., H. Yagi, H.M., T.K., I.K.), University of Tokyo Hospital, Japan.

作者： Norifumi,Takeda ^[1] ; Ryo,Inuzuka ^[2] ; Hiroki,Yagi ^[1] ; Hiroyuki,Morita ^[1] ; Masahiko,Ando ^[3] ; Haruo,Yamauchi ^[3] ; Yuki,Taniguchi ^[4] ; Kristine Joyce,Porto ^[5] ; Tsubasa,Kanaya ^[1] ; Hiroyuki,Ishiura ^[5] ; Jun,Mitsui ^[5] ; Shoji,Tsuji ^[5] ; Tatsushi,Toda ^[5] ; Minoru,Ono ^[3] ; Issei,Komuro ^[1]

作者单位： Department of Cardiovascular Medicine (N.T., H. Yagi, H.M., T.K., I.K.), University of Tokyo Hospital, Japan. ^[1] Department of Pediatrics (R.I.), University of Tokyo Hospital, Japan. ^[2] Department of Cardiac Surgery (M.A., H. Yamauchi, M.O.), University of Tokyo Hospital, Japan. ^[3] Department of Orthopedic Surgery (Y.T.), University of Tokyo Hospital, Japan. ^[4] Department of Neurology (K.J.P., H.I., J.M., S.T., T.T.), University of Tokyo Hospital, Japan. ^[5]

关键词 genetic testing nucleotides precision medicine technology

主题词青少年(Adolescent);成年人(Adult);主动脉疾病(Aortic Diseases);儿童(Child);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);人类(Humans);男(雄)性(Male);中年人(Middle Aged)

DOI 10.1161/CIRCGEN.121.003458

PMID 34325513

发布时间 2022-02-11

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Circulation. Genomic and precision medicine

2021年14卷4期

e003458页

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Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.

Circulation. Genomic and precision medicine

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Circulation. Genomic and precision medicine

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Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.

Circulation. Genomic and precision medicine

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Circulation. Genomic and precision medicine

相关期刊

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