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

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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Bibliographic Details
Main Authors: Jia Na, Lang Cui, Zhen Zhen, Xi Chen, Qirui Li, Lu Gao, Yue Yuan
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Pediatrics
Subjects:
ZTTK syndrome
SON gene
Myocardial injury
Case report
Online Access:https://doi.org/10.1186/s12887-024-04703-4

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