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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan, Xin; Zhao, Sen; Yu, Chenxi; Wu, Di; Yan, Zihui; Fan, Lijun; Song, Yanning; Wang, Yi; Li, Chuan; Ming, Yue; Gui, Baoheng; Niu, Yuchen; Li, Xiaoxin; Yang, Xinzhuang; Luo, Shiyu; Zhang, Qiang; Zhao, Xiuli; Pan, Hui; Li, Mei; Xia, Weibo; Qiu, Guixing; Liu, Pengfei; Zhang, Shuyang; Zhang, Jianguo; Wu, Zhihong; Lupski, James R; Posey, Jennifer E; Chen, Shaoke; Gong, Chunxiu; Wu, Nan.
Afiliação
  • Fan X; Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi 530003, China.
  • Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 1
  • Yu C; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 1
  • Wu D; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Yan Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 1
  • Fan L; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Song Y; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Wang Y; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Li C; Department of Pediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530003, China; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530003, China.
  • Ming Y; PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
  • Gui B; Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi 530003, China.
  • Niu Y; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Li X; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Yang X; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Luo S; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.
  • Zhang Q; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530003, China.
  • Zhao X; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.
  • Pan H; Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Li M; Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Xia W; Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Qiu G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 1
  • Liu P; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Baylor Genetics, Houston, TX 77021, USA.
  • Zhang S; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
  • Zhang J; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medica
  • Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Key Laboratory of Big Data for Spinal Deformities, Ch
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Departments of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Chen S; Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi 530003, China.
  • Gong C; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China. Electronic address: chunxiugong@sina.com.
  • Wu N; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 1
J Genet Genomics ; 48(5): 396-402, 2021 05 20.
Article em En | MEDLINE | ID: mdl-34006472
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Nanismo / Estudos de Associação Genética / Exoma / Sequenciamento do Exoma Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Nanismo / Estudos de Associação Genética / Exoma / Sequenciamento do Exoma Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article