PTBP1 and skeletal dysplasia: Through data sharing with the national French Genomic Initiative (PFMG2025-laboratory AURAGEN) or with international laboratories using the GeneMatcher (53) platform, 23 other individuals with PTBP1 start-loss variants were identified (Figure 2 and Supplemental Tables 1 and 2), all displaying overlapping phenotypes with variable associations of skeletal dysplasia, short-limbed short stature, and DD (Figure 1A).