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

Reply to <i>Before scoliosis can be attributed to the variant c.326G&gt;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...

Full description

Saved in:
Bibliographic Details
Main Authors: Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero
Format: Article
Language:English
Published: PAGEPress Publications 2025-06-01
Series:European Journal of Translational Myology
Subjects:
MYH3
scoliosis
genetic testing
Freeman-Sheldon syndrome
Sheldon Hall syndrome
Online Access:https://www.pagepressjournals.org/bam/article/view/14034
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items