Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i>
Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome th...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2025-06-01
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| Series: | European Journal of Translational Myology |
| Subjects: | |
| Online Access: | https://www.pagepressjournals.org/bam/article/view/14034 |
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| Summary: | Dear Editor,
We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...]
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| ISSN: | 2037-7452 2037-7460 |