Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report

• 主要な著者: Jia Na (著者), Lang Cui (著者), Zhen Zhen (著者), Xi Chen (著者), Qirui Li (著者), Lu Gao (著者), Yue Yuan (著者)
• フォーマット: 図書
• 出版事項: BMC, 2024-04-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome) is a severe multi-systemic developmental disorder, caused by variants in the SON gene. A patient diagnosed with ZTTK syndrome who carried a de novo SON mutation and exhibited recurrent myocardial injury was described in this case...