RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient
Key Clinical Message Recent studies have established an association between RMND1 variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in RMND1 and PLN, respectively.
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.9537 |
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