De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

被引：0
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作者：
Yongguo Yu
RuEn Yao
Lili Wang
Yanjie Fan
Xiaodong Huang
Joel Hirschhorn
Andrew Dauber
Yiping Shen
机构：
[1] Shanghai Jiao Tong University School of Medicine,Department of Pediatric Endocrinology/Genetics, Xinhua Hospital
[2] Shanghai Institute for Pediatric Research,Medical Genetics Department, Shanghai Children’s Medical Center
[3] Shanghai Jiaotong University School of Medicine,Division of Endocrinology and Genetic Metabolism, Department of Internal Medicine, Shanghai Children’s Medical Center
[4] Shanghai Jiaotong University School of Medicine,undefined
[5] Division of Endocrinology and Division of Genetics,undefined
[6] Children’s Hospital Boston,undefined
[7] Program in Medical and Population Genetics,undefined
[8] Metabolism Program,undefined
[9] Broad Institute,undefined
[10] Center for Basic and Translational Obesity Research,undefined
[11] Children’s Hospital Boston,undefined
[12] Division of Endocrinology,undefined
[13] Cincinnati Children’s Hospital Medical Center,undefined
[14] Department of Laboratory Medicine,undefined
[15] Boston Children’s Hospital,undefined
[16] Department of Pathology,undefined
[17] Harvard Medical School,undefined
[18] Claritas Genomics,undefined
来源：
BMC Genomics | / 16卷
关键词：
Short stature; Haploinsufficiency; Coffin-Siris Syndrome; Chromatin remodeling;
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