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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-025-05853-9 |
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