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Cohen, LE, Rogol, AD. Children with idiopathic short stature: an expanding role for genetic investigation in their medical evaluation. Endocr Pract 2024;30: 679\u201386.","DOI":"10.1016\/j.eprac.2024.04.009"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Scalco, RC, Schoones, JW, Galetaki, D, Santillan-Vasconez, AM, Kim, GJ, Cellin, LP, et al. Diagnostic yield of genetic testing in children with short stature: a systematic review. Eur J Endocrinol 2026;194: S15\u201324.","DOI":"10.1093\/ejendo\/lvag011"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Dauber, A, Jorge, AAL, Nilsson, O, Dekkers, OM, Argente, J, Netchine, I, et al. International guideline on genetic testing of children with short stature. Eur J Endocrinol 2026;194: R17\u201336.","DOI":"10.1093\/ejendo\/lvag013"},{"key":"4","doi-asserted-by":"publisher","unstructured":"4. Andrade, NLM, Cellin, LP, Rezende, RC, Vasques, GA, Jorge, AAL. Idiopathic short stature: what to expect from genomic investigations. Endocrines 2023;4: 1\u201317.","DOI":"10.3390\/endocrines4010001"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Andrade, NLM, Funari, MFA, Malaquias, AC, Collett-Solberg, PF, Gomes, NLRA, Scalco, R, et al. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature. Endocr Connect 2022;11: e220214.","DOI":"10.1530\/EC-22-0214"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Hauer, NN, Sticht, H, Boppudi, S, B\u00fcttner, C, Kraus, C, Trautmann, U, et al. Genetic screening confirms heterozygous mutations in <i>ACAN<\/i> as a major cause of idiopathic short stature. Sci Rep 2017;7: 12225.","DOI":"10.1038\/s41598-017-12465-6"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Stavber, L, Gaia, MJ, Hovnik, T, Jenko Bizjan, B, Debeljak, M, Kova\u010d, J, et al. Heterozygous <i>NPR2<\/i> Variants in Idiopathic Short Stature. Genes (Basel) 2022;13: 1065.","DOI":"10.3390\/genes13061065"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Vasques, GA, Funari, MFA, Ferreira, FM, Aza-Carmona, M, Sentchordi-Montan\u00e9, L, Barraza-Garc\u00eda, J, et al. <i>IHH<\/i> gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy. J Clin Endocrinol Metab 2018;103: 604\u201314.","DOI":"10.1210\/jc.2017-02026"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Dauber, A, Mu\u00f1oz-Calvo, MT, Barrios, V, Domen\u00e9, HM, Kloverpris, S, Serra-Juh\u00e9, C, et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med 2016;8: 363\u201374.","DOI":"10.15252\/emmm.201506106"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Caliebe, J, Broekman, S, Boogaard, M, Bosch, CAJ, Ruivenkamp, CAL, Oostdijk, W, et al. <i>IGF1, IGF1R<\/i> and <i>SHOX<\/i> mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). Horm Res Paediatr 2012;77: 250\u201360.","DOI":"10.1159\/000338341"},{"key":"11","unstructured":"11. Tillmann, V, Tang, VW, Price, DA, Clayton, PE, Addison, GM. Magnetic resonance imaging of the hypothalamic-pituitary region in children evaluated for possible GH disorders. Horm Res 2000;53: 30\u20135."},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Kemp, SF, Alter, CA, Dana, K, Baptista, J, Blethen, SL. Use of magnetic resonance imaging in short stature: data from National Cooperative Growth Study (NCGS) Substudy 8. J Pediatr Endocrinol Metab 2002;15(Suppl 2): 675\u20139.","DOI":"10.1515\/JPEM.2002.15.S2.675"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Kessler, M, Tenner, M, Frey, M, Noto, R. Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls. J Pediatr Endocrinol Metab 2016;29: 1195\u2013200.","DOI":"10.1515\/jpem-2015-0404"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Brener, A, Kozyrev, DA, Shiran, SI, Azoulay, E, Pratt, LT, Precel, R, et al. Incidental findings on brain magnetic resonance imaging (MRI) in pediatric endocrine patients. Endocr Pract 2020;26: 1105\u201314.","DOI":"10.4158\/EP-2020-0208"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Oh, JS, Sohn, B, Choi, Y, Song, K, Suh, J, Kwon, A, et al. The influence of pituitary volume on the growth response in growth hormone-treated children with growth hormone deficiency or idiopathic short stature. Ann Pediatr Endocrinol Metab 2024;29: 95\u2013101.","DOI":"10.6065\/apem.2346052.026"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Marin, M, Murru, FM, Baldo, F, Tamaro, G, Faleschini, E, Barbi, E, et al. Minimizing unnecessary brain magnetic resonance imaging in pediatric endocrinology: a retrospective cohort anaysis. Front Endocrinol (Lausanne) 2024;15: 1456541.","DOI":"10.3389\/fendo.2024.1456541"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Blum, WF, Ross, JL, Zimmermann, AG, Quigley, CA, Child, CJ, Kalifa, G, et al. GH treatment to final height produces similar height gains in patients with <i>SHOX<\/i> deficiency and Turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab 2013;98: E1383\u201392.","DOI":"10.1210\/jc.2013-1222"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Benabbad, I, Rosilio, M, Child, CJ, Carel, JC, Ross, JL, Deal, CL, et al. Safety outcomes and near-adult height gain of growth hormone-treated children with <i>SHOX<\/i> deficiency: data from an observational study and a clinical trial. Horm Res Paediatr 2017;87: 42\u201350.","DOI":"10.1159\/000452973"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Renes, JS, Reedijk, AMJ, Losekoot, M, Kant, SG, Van der Steen, M, Van der Kaay, DCM, et al. Clinical characteristics of pathogenic <i>ACAN<\/i> variants and 3-year response to growth hormone treatment: real-world data. Horm Res Paediatr 2024;97: 456\u201369.","DOI":"10.1159\/000535651"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Child, CJ, Quigley, CA, Cutler, GB, Moore, WV, Wintergerst, KA, Ross, JL, et al. Height gain and safety outcomes in growth hormone-treated children with idiopathic short stature: experience from a prospective observational study. Horm Res Paediatr 2019;91: 241\u201351.","DOI":"10.1159\/000500087"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Mamada, M, Yorifuji, T, Kurokawa, K, Kawai, M, Momoi, T, Nakahata, T. Prevalence of mutations in the <i>FGFR3<\/i> gene in individuals with idiopathic short stature. Clin Pediatr Endocrinol 2006;15: 61\u20134.","DOI":"10.1297\/cpe.15.61"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Ranke, MB, Wit, JM. Growth hormone - past, present and future. Nat Rev Endocrinol 2018;14: 285\u2013300.","DOI":"10.1038\/nrendo.2018.22"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Ogata, T, Fukami, M, Tanizawa, K, Yamamoto, T, Sato, Y, Hirai, H, et al. Efficacy and safety of GH treatment in Japanese children with short stature due to <i>SHOX<\/i> deficiency: a randomized phase 3 study. Clin Pediatr Endocrinol 2024;33: 43\u20139.","DOI":"10.1297\/cpe.2023-0070"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. \u00c7etin, T, \u015e\u0131klar, Z, Kocaay, P, Berbero\u011flu, M. Evaluation of efficacy of long-term growth hormone therapy in patients with hypochondroplasia. J Clin Res Pediatr Endocrinol 2018;10: 373\u20136.","DOI":"10.4274\/jcrpe.0043"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. 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