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Front Pediatr 9: 660111.","DOI":"10.3389\/fped.2021.660111"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Yang L, Xu DD, Sun CJ, Wu J, Wei HY, et al. (2018) IGF1R variants in patients with growth impairment: four novel variants and genotype-phenotype correlations. J Clin Endocrinol Metab 103: 3939\u20133944.","DOI":"10.1210\/jc.2017-02782"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Finken MJJ, van der Steen M, Smeets CCJ, Walenkamp MJE, de Bruin C, et al. (2018) Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications. Endocr Rev 39: 851\u2013894.","DOI":"10.1210\/er.2018-00083"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Savarese E, Di Felice B, Miconi F, Cabiati G, Celi F, et al. (2018) An association of PTPN11 and SHOX mutations in a male presenting with syndromic growth failure. Front Endocrinol (Lausanne) 9: 557.","DOI":"10.3389\/fendo.2018.00557"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Hwa V, Fujimoto M, Zhu G, Gao W, Foley C, et al. (2021) Genetic causes of growth hormone insensitivity beyond GHR. Rev Endocr Metab Disord 22: 43\u201358.","DOI":"10.1007\/s11154-020-09603-3"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Mahmoud R, Naidu A, Risheg H, Kimonis V (2017) Response to growth hormone treatment in a patient with insulin-like growth factor 1 receptor deletion. J Clin Res Pediatr Endocrinol 9: 380\u2013386.","DOI":"10.4274\/jcrpe.4456"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Walenkamp MJE, Robers JML, Wit JM, Zandwijken GRJ, van Duyvenvoorde HA, et al. (2019) Phenotypic features and response to GH treatment of patients with a molecular defect of the IGF-1 receptor. 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(2009) Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay. J Clin Endocrinol Metab 94: 1740\u20131747.","DOI":"10.1210\/jc.2008-1903"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Eijk-Van Os PG, Schouten JP (2011) Multiplex Ligation-dependent Probe Amplification (MLPA<sup>\u00ae<\/sup>) for the detection of copy number variation in genomic sequences. Methods Mol Biol 688: 97\u2013126.","DOI":"10.1007\/978-1-60761-947-5_8"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: e57.","DOI":"10.1093\/nar\/gnf056"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Richards S, Aziz N, Bale S, Bick D, Das S, et al. 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(2013) Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. Eur J Hum Genet 21: 1304\u20131307.","DOI":"10.1038\/ejhg.2013.42"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40 Pelosi P, Lapi E, Cavalli L, Verrotti A, Pantaleo M, et al. (2017) Bone status in a patient with insulin-like growth factor-1 receptor deletion syndrome: bone quality and structure evaluation using dual-energy X-ray absorptiometry, peripheral quantitative computed tomography, and quantitative ultrasonography. Front Endocrinol (Lausanne) 8: 227.","DOI":"10.3389\/fendo.2017.00227"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41 Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, et al. (2017) Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. 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