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Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.
Gong, Lei; Odilov, Bekzod; Han, Feng; Liu, Fuqiang; Sun, Yujing; Zhang, Ningxin; Zuo, Xiaolin; Yang, Jiaojiao; Wang, Shouyu; Hou, Xinguo; Ren, Jianmin.
Afiliação
  • Gong L; Department of Endocrinology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
  • Odilov B; Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, 250012, China.
  • Han F; Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, 250012, China.
  • Liu F; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, 250012, China.
  • Sun Y; Department of Endocrinology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
  • Zhang N; Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, 250012, China.
  • Zuo X; Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, 250012, China.
  • Yang J; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, 250012, China.
  • Wang S; Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, 250012, China.
  • Hou X; Department of Endocrinology, Zhangqiu District People's Hospital, Jinan, 250200, China.
  • Ren J; Department of Endocrinology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
Genes Genomics ; 44(6): 683-690, 2022 06.
Article em En | MEDLINE | ID: mdl-35235174

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Cleidocraniana / Subunidade alfa 1 de Fator de Ligação ao Core Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Cleidocraniana / Subunidade alfa 1 de Fator de Ligação ao Core Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article