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Article

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

BMC pediatrics - 2 Apr 2024

Na Jia, Cui Lang, Zhen Zhen, Chen Xi, Li Qirui, Gao Lu, Yuan Yue

Abstract excerpt

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. CASE PRESENTATION: A 7-year-old girl was admitted to the Cardiology Department of Beijing Children's Hospital in November...

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Identifiers

PMID: 38566089
DOI: 10.1186/s12887-024-04703-4
PMCID: PMC10985872

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