These findings warrant further investigation, ideally through spatial or single-cell transcriptomics in relevant cell types (e.g., induced pluripotent stem cell-derived organoids) and in vivo models (e.g., knock-in mice), to better elucidate the relationship between PTBP1 mislocalization to the cytoplasm and P-bodies, and its role in skeletal dysplasia and neurodevelopmental pathophysiology. This evidence concerns the gene PTBP1 and skeletal dysplasia.