MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review

MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review

Abstract Background MYRF gene mutations can lead to the development of Cardio-Urogenital Syndrome (CUGS), characterized by congenital heart disease, abnormalities in the internal and external reproductive organs, and ocular anomalies. CUGS can manifest with various types of congenital heart diseases...

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Bibliographic Details
Main Authors: Jianhua Ding, Zhenyu Lv, Zhen Zhen, Yong Gai, Yanyan Xiao
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Pediatrics
Subjects:
MYRF
Cardio-urogenital syndrome
Coronary artery anomaly
Online Access:https://doi.org/10.1186/s12887-025-05853-9
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