DOAJ Open Access 2025

Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i>

Maria Chiara Maccarone Matilde Paramento Edoardo Passarotto Paola Contessa Maria Rubega +2 lainnya

Abstrak

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. [...]

Topik & Kata Kunci

Medicine Human anatomy

Penulis (7)

Maria Chiara Maccarone

Matilde Paramento

Edoardo Passarotto

Paola Contessa

Maria Rubega

Emanuela Formaggio

Stefano Masiero

Format Sitasi

APA MLA BibTeX

Maccarone, M.C., Paramento, M., Passarotto, E., Contessa, P., Rubega, M., Formaggio, E. et al. (2025). Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i>. https://doi.org/10.4081/ejtm.2025.14034

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