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A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.

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Bibliographic Details
Title: A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Authors: 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.
Source: Pediatric research [Pediatr Res] 2023 Aug; Vol. 94 (2), pp. 683-690. Date of Electronic Publication: 2023 Feb 09.
Publication Type: Systematic Review; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0447
DOI:10.1038/s41390-023-02515-3