Publications by authors named "Emmanuelle Mayrargue"
Introduction: Pediatric idiopathic pes planovalgus can correct itself with growth. Otherwise, in the event of functional impairment and after failed conservative treatment, surgery can be considered. Based on a multicenter retrospective study, we report the functional and radiographic results obtained after subtalar arthroereisis.
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- Variants in ribosomal protein genes are linked to certain genetic disorders like Diamond-Blackfan anemia and congenital asplenia; this study focuses on RPL13's role in a rare bone dysplasia linked to severe short stature.
- The research identifies one missense variant and three splice variants in RPL13, resulting in an insertion of 18 amino acids, yet no significant pre-rRNA processing issues were found in affected cells.
- The data shows that RPL13 is crucial for bone development, as it's highly expressed in chondrocytes and osteoblasts, indicating its involvement in the translation dynamics affecting ribosome function in skeletal disorders.