{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:37:21Z","timestamp":1753439841961},"reference-count":20,"publisher":"Spandidos Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.3892\/ijmm.2012.1048","type":"journal-article","created":{"date-parts":[[2012,6,28]],"date-time":"2012-06-28T11:34:19Z","timestamp":1340883259000},"page":"713-717","source":"Crossref","is-referenced-by-count":6,"title":["A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I"],"prefix":"10.3892","volume":"30","author":[{"given":"JU-HYUNG","family":"KANG","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"OK-SOON","family":"KIM","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JA-HYUN","family":"KIM","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SEONG-KYU","family":"LEE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YOUN-JONG","family":"PARK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HAING-WOON","family":"BAIK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2012,6,28]]},"reference":[{"key":"key20180107233748_b1-ijmm-30-03-0713","first-page":"575","article-title":"National Institutes of Health Consensus Development Conference","volume":"45","author":"Neurofibromatosis Conference statement","year":"1988","journal-title":"Arch Neurol"},{"key":"key20180107233748_b2-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1542\/peds.103.6.1257","article-title":"Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study","volume":"103","author":"Carmi","year":"1999","journal-title":"Pediatrics"},{"key":"key20180107233748_b3-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1056\/NEJMoa022926","article-title":"Growth hormone insensitivity associated with a STAT5b mutation","volume":"349","author":"Kofoed","year":"2003","journal-title":"N Engl J Med"},{"key":"key20180107233748_b4-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"4260","DOI":"10.1210\/jc.2005-0515","article-title":"Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b","volume":"90","author":"Hwa","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"key20180107233748_b5-ijmm-30-03-0713","first-page":"152","article-title":"Genetic pituitary dwarfism with high serum concentration of growth hormone - a new inborn error of metabolism?","volume":"2","author":"Laron","year":"1966","journal-title":"Isr J Med Sci"},{"key":"key20180107233748_b6-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1210\/jc.2003-031033","article-title":"Laron syndrome (primary growth resistance or insensitivity): the personal experience 1958\u20132003","volume":"89","author":"Laron","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"key20180107233748_b7-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1055\/s-0037-1615637","article-title":"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations","volume":"85","author":"Vidal","year":"2001","journal-title":"Thromb Haemost"},{"key":"key20180107233748_b8-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/S0022-3476(05)80342-7","article-title":"Congenital idiopathic growth hormone deficiency is associated with prenatal and early postnatal growth failure","volume":"121","author":"Gluckman","year":"1992","journal-title":"J Pediatr"},{"key":"key20180107233748_b9-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1056\/NEJM199610313351805","article-title":"Intrauterine growth retardation and postnatal growth failure associated with deletion of insulin-like growth factor I gene","volume":"335","author":"Wood","year":"1996","journal-title":"N Eng J Med"},{"key":"key20180107233748_b10-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1542\/peds.100.4.667","article-title":"Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1","volume":"100","author":"Cnossen","year":"1997","journal-title":"Pediatrics"},{"key":"key20180107233748_b11-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1136\/jmg.37.12.933","article-title":"Growth in North American white children with neurofibromatosis 1 (NF1)","volume":"37","author":"Szudeck","year":"2000","journal-title":"J Med Genet"},{"key":"key20180107233748_b12-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<317::AID-AJMG7>3.0.CO;2-X","article-title":"Neurofibromatosis type 1 growth charts","volume":"87","author":"Clementi","year":"1999","journal-title":"Am J Med Genet"},{"key":"key20180107233748_b13-ijmm-30-03-0713","first-page":"998","article-title":"Diverse growth hormone receptor gene mutations in Laron syndrome","volume":"52","author":"Berg","year":"1993","journal-title":"Am J Hum Genet"},{"key":"key20180107233748_b14-ijmm-30-03-0713","first-page":"559","article-title":"Alternative processing of growth hormone receptor transcripts","volume":"19","author":"Edens","year":"1998","journal-title":"Endocr Rev"},{"key":"key20180107233748_b15-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/S1043-2760(98)00070-8","article-title":"Lessons from the genetics of Laron syndrome","volume":"9","author":"Rosenblooma","year":"1998","journal-title":"Trends Endocrinol Metab"},{"key":"key20180107233748_b16-ijmm-30-03-0713","first-page":"275","article-title":"Congenital growth hormone insensitivity syndromes and their relevance to idiopathic short stature","volume":"50","author":"Clayton","year":"1999","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key20180107233748_b17-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.ecl.2005.04.009","article-title":"Diagnostic and therapeutic advances in growth hormone insensitivity","volume":"34","author":"David","year":"2005","journal-title":"Endocrinol Metab Clin North Am"},{"key":"key20180107233748_b18-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1086\/323266","article-title":"Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity","volume":"69","author":"Metherell","year":"2001","journal-title":"Am J Hum Genet"},{"key":"key20180107233748_b19-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1677\/joe.1.06252","article-title":"A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling","volume":"188","author":"Maamra","year":"2006","journal-title":"J Endocrinol"},{"key":"key20180107233748_b20-ijmm-30-03-0713","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1210\/jc.2006-1527","article-title":"An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes","volume":"92","author":"David","year":"2007","journal-title":"J Clin Endocrinol Metab"}],"container-title":["International Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/ijmm.2012.1048\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,30]],"date-time":"2019-06-30T10:42:59Z","timestamp":1561891379000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/ijmm.2012.1048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,28]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,6,28]]},"published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.3892\/ijmm.2012.1048"],"URL":"https:\/\/doi.org\/10.3892\/ijmm.2012.1048","relation":{},"ISSN":["1107-3756","1791-244X"],"issn-type":[{"value":"1107-3756","type":"print"},{"value":"1791-244X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,28]]}}}