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Trigui, M, Pallares-Ruiz, N, Genevi\u00e8ve, D, Amouroux, C, Edouard, T, Sigaudy, S, et al. Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants. Eur J Hum Genet 2025;33: 1647\u201354.","DOI":"10.1038\/s41431-025-01943-5"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Farman, MR, Rehder, C, Malli, T, Rockman-Greenberg, C, Dahir, K, Martos-Moreno, G\u00c1, et al. The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone 2024;178: 116947.","DOI":"10.1016\/j.bone.2023.116947"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Dateki, S. <i>ACAN<\/i> mutations as a cause of familial short stature. Clin Pediatr Endocrinol 2017;26: 119\u201325.","DOI":"10.1297\/cpe.26.119"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Xu, D, Sun, C, Zhou, Z, Wu, B, Yang, L, Chang, Z, et al. Novel aggrecan variant, p. 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