Reply to Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven
Year: 2025
Type: letter
Abstract: 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. [...].
Institutions: University of Padua, Azienda Ospedale - Università Padova
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $377
OpenAlex ID: W4411712355