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

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...

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出版年:	BMC Pediatrics
主要な著者:	Jia Na, Lang Cui, Zhen Zhen, Xi Chen, Qirui Li, Lu Gao, Yue Yuan
フォーマット:	論文
言語:	英語
出版事項:	BMC 2024-04-01
主題:	ZTTK syndrome SON gene Myocardial injury Case report
オンライン･アクセス:	https://doi.org/10.1186/s12887-024-04703-4