Your browser doesn't support javascript.
loading
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen, Weisheng; Lin, Jiachen; Wang, Lianlei; Li, Xiaoxin; Zhao, Sen; Liu, Jiaqi; Akdemir, Zeynep C; Zhao, Yanxue; Du, Renqian; Ye, Yongyu; Song, Xiaofei; Zhang, Yuanqiang; Yan, Zihui; Yang, Xinzhuang; Lin, Mao; Shen, Jianxiong; Wang, Shengru; Gao, Na; Yang, Ying; Liu, Ying; Li, Wenli; Liu, Jia; Zhang, Na; Yang, Xu; Xu, Yuan; Zhang, Jianguo; Delgado, Mauricio R; Posey, Jennifer E; Qiu, Guixing; Rios, Jonathan J; Liu, Pengfei; Wise, Carol A; Zhang, Feng; Wu, Zhihong; Lupski, James R; Wu, Nan.
Afiliación
  • Chen W; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Lin J; Graduate School of Peking Union Medical College, Beijing, China.
  • Wang L; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Zhao S; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Liu J; Graduate School of Peking Union Medical College, Beijing, China.
  • Akdemir ZC; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhao Y; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Du R; Graduate School of Peking Union Medical College, Beijing, China.
  • Ye Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Song X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhang Y; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Yan Z; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Yang X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Lin M; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Shen J; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Wang S; Department of Breast Surgical Oncology, National Cancer Center/Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Gao N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Yang Y; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Liu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Li W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Liu J; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhang N; Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
  • Yang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Xu Y; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang J; Graduate School of Peking Union Medical College, Beijing, China.
  • Delgado MR; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Posey JE; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Qiu G; Graduate School of Peking Union Medical College, Beijing, China.
  • Rios JJ; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Liu P; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Wise CA; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang F; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Wu Z; Graduate School of Peking Union Medical College, Beijing, China.
  • Lupski JR; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Wu N; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Hum Mutat ; 41(1): 182-195, 2020 01.
Article en En | MEDLINE | ID: mdl-31471994
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Mutación Missense / Proteínas de Dominio T Box / Patrón de Herencia / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Mutación Missense / Proteínas de Dominio T Box / Patrón de Herencia / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: China