{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T07:25:25Z","timestamp":1767597925814},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study was performed to clarify the pathophysiology of familial short stature with moderate GH deficiency.<\/jats:p><jats:p>The siblings showed moderate GH deficiency with short stature. Pedigree analysis revealed an accumulation of the history of short stature in father\u2019s relatives, although there was no consanguinity.<\/jats:p><jats:p>We performed sequencing analysis of GH1 and GHSR gene in the siblings.<\/jats:p><jats:p>We detected SNPs in the GH1 gene in the combination of the \u2009\u2212\u2009278G, \u2009\u2212\u200957T, +1169T, and +2103C in one allele from the father and the \u2009\u2212\u2009278T, \u2009\u2212\u200957G, +1169 A, and +2103T in the other allele from the mother in the siblings. In the previous report, the \u2212278G and \u2009\u2212\u200957T allele are associated with low serum IGF-I levels in patients with isolated GH deficiency and the haplotype of the \u2009\u2212\u2009278T, \u2009\u2212\u200957G, +1169 A, and +2103T allele exhibited an impaired GH secretion in vitro.<\/jats:p><jats:p>It is suggested that these haplotypes were responsible at least in part for the GH deficiency and short stature in these siblings.<\/jats:p>","DOI":"10.1055\/s-0032-1309011","type":"journal-article","created":{"date-parts":[[2012,5,2]],"date-time":"2012-05-02T05:42:47Z","timestamp":1335937367000},"page":"308-310","source":"Crossref","is-referenced-by-count":2,"title":["Growth Hormone Deficiency in 2 Siblings Associated with Combined GH1 Gene Polymorphisms"],"prefix":"10.1055","volume":"120","author":[{"given":"M.","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Iguchi","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Fukuoka","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Miyako","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Beppu Medical Center, Oita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2012,4,27]]},"container-title":["Experimental and Clinical Endocrinology &amp; Diabetes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0032-1309011.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T14:45:09Z","timestamp":1691160309000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0032-1309011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,27]]},"references-count":0,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2012,5,21]]},"published-print":{"date-parts":[[2012,5]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0032-1309011","relation":{},"ISSN":["0947-7349","1439-3646"],"issn-type":[{"value":"0947-7349","type":"print"},{"value":"1439-3646","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,27]]}}}