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

• Main Authors: Jia Na (Author), Lang Cui (Author), Zhen Zhen (Author), Xi Chen (Author), Qirui Li (Author), Lu Gao (Author), Yue Yuan (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...