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

回复:在将脊柱侧弯归因于MYH3基因c.326G>A变异之前,必须先证明其致病性。

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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. [...].

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