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Fukami M, Seki A, Ogata T (2016) SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature. <i>Mol Syndromol<\/i> 7: 3-11.","DOI":"10.1159\/000444596"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Marstrand-Joergensen MR, Jensen RB, Aksglaede L, Duno M, Juul A (2017) Prevalence of SHOX haploinsufficiency among short statured children. <i>Pediatr Res<\/i> 81: 335-341.","DOI":"10.1038\/pr.2016.233"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, <i>et al<\/i>. (2014) Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. <i>J Clin Endocrinol Metab<\/i> 99: E1510-E1518.","DOI":"10.1210\/jc.2014-1332"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. 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Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA 3rd, Souza AH, <i>et al<\/i>. (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. <i>J Clin Endocrinol Metab<\/i> 84: 917-923.","DOI":"10.1210\/jc.84.3.917"},{"key":"25","unstructured":"25. Salvatori R, Fan X, Phillip JA 3rd, Espigares-Martin R, Martin De Lara I, <i>et al<\/i>. (2001) Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type Ib. <i>J Clin Endocrinol Metab<\/i> 86: 273-279."},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Salvatori R, Fan X, Veldhuis JD, Couch R (2002) Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. <i>Eur J Endocrinol<\/i> 147: 591-596.","DOI":"10.1530\/eje.0.1470591"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, <i>et al<\/i>. (2013) Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. <i>Growth Horm IGF Res<\/i> 23: 89-97.","DOI":"10.1016\/j.ghir.2013.03.003"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Zoledziewska M, Sidore C, Chiang CWK, Sanna S, Mulas A, <i>et al<\/i>. (2015) Height-reducing variants and selection for short stature in Sardinia. <i>Nat Genet<\/i> 47: 1352-1356.","DOI":"10.1038\/ng.3403"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Fofanova-Gambetti OV, Hwa V, Wit JM, Domene HM, Argente J, <i>et al<\/i>. (2010) Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. <i>J Clin Endocrinol Metab<\/i> 95: 4184-4191.","DOI":"10.1210\/jc.2010-0489"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/64\/10\/64_EJ17-0150\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T03:38:55Z","timestamp":1602646735000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/64\/10\/64_EJ17-0150\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":29,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej17-0150","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}