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

• Váldodahkkit: Jia Na (Dahkki), Lang Cui (Dahkki), Zhen Zhen (Dahkki), Xi Chen (Dahkki), Qirui Li (Dahkki), Lu Gao (Dahkki), Yue Yuan (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2024-04-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...