Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.

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作者： Kaori,Hara-Isono ^[1] ; Akie,Nakamura ^[2] ; Tomoko,Fuke ^[1] ; Takanobu,Inoue ^[3] ; Sayaka,Kawashima ^[1] ; Keiko,Matsubara ^[1] ; Shinichiro,Sano ^[1] ; Kazuki,Yamazawa ^[1] ; Maki,Fukami ^[1] ; Tsutomu,Ogata ^[4] ; Masayo,Kagami ^[1]

作者单位： Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan. ^[1] Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan. ^[2] Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo 060-8648, Japan. ^[3] Department of Endocrinology and Metabolism, Shizuoka Children's Hospital, Shizuoka 420-8660, Japan. ^[4] Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan. ^[5] Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. ^[6] Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu 432-8580, Japan. ^[7]

关键词 SGA pathogenic copy number variants pathogenic variants short stature

主题词 DNA拷贝数变异(DNA Copy Number Variations);侏儒症(Dwarfism);基因检测(Genetic Testing);人类(Humans);婴儿, 新生(Infant, Newborn);婴儿, 小于胎龄(Infant, Small for Gestational Age);Silver-Russell综合征(Silver-Russell Syndrome)

DOI 10.1210/clinem/dgac319

PMID 35583390

发布时间 2022-07-28

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