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A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Fan, Peng; Yang, Kun-Qi; Han, Bing; Kong, Dan; Yin, Wei-Hua; Li, Jing-Hui; Yang, Zhuo-Xuan; Niu, Li-Li; Fu, Chun-Sheng; Rong, Cheng-Zhen; Lin, Ya-Hui; Wang, Hu; Zhou, Xian-Liang; Gao, Ling-Gen; Qin, Xiu-Chuan; Tian, Tao.
Afiliação
  • Fan P; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Yang KQ; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Han B; Department of Ophthalmology, Beijing Jishuitan Hospital, Beijing, China.
  • Kong D; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Yin WH; Department of Radiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li JH; Departments of Magnetic Resonance Imaging, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Yang ZX; Department of Cardiology, Yuncheng Central Hospital, Yuncheng, China.
  • Niu LL; Department of Echocardiography, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Fu CS; Department of Cardiology, the Second Hospital of Anhui Medical University, Hefei, China.
  • Rong CZ; Department of Cardiology, the Second People's Hospital of Fuyang, Fuyang, China.
  • Lin YH; Diagnostic Laboratory Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Wang H; Department of Medicine, UT Health San Antonio, San Antonio, TX, USA.
  • Zhou XL; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Gao LG; Department of Comprehensive Surgery, Chinese PLA General Hospital, Beijing, China. gaolinggen@163.com.
  • Qin XC; Department of Emergency Centre, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. xiuchuanqin@126.com.
  • Tian T; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. tiantaophd@163.com.
Pediatr Res ; 94(2): 683-690, 2023 08.
Article em En | MEDLINE | ID: mdl-36759750

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Cardiomiopatias Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Pediatr Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Cardiomiopatias Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Pediatr Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China