{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:30:26Z","timestamp":1773790226251,"version":"3.50.1"},"reference-count":22,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004191","name":"Novo Nordisk","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004191","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.ejmg.2019.103830","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T02:42:57Z","timestamp":1577328177000},"page":"103830","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature"],"prefix":"10.1016","volume":"63","author":[{"given":"Yael","family":"Levy-Shraga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalit","family":"Modan-Moses","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shlomo","family":"Wientroub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dror","family":"Ovadia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonid","family":"Zeitlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2019.103830_bib1","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/cen.13535","article-title":"Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes","volume":"88","author":"Correa","year":"2018","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.ejmg.2019.103830_bib2","first-page":"86","article-title":"'Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I'","volume":"56","author":"de Barros","year":"2016","journal-title":"Rev Bras Reumatol Engl Ed"},{"key":"10.1016\/j.ejmg.2019.103830_bib3","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/01241398-199505000-00023","article-title":"'Hip pathology in the trichorhinophalangeal syndrome","volume":"15","author":"Dunbar","year":"1995","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ejmg.2019.103830_bib4","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1302\/0301-620X.68B2.3958020","article-title":"'The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds","volume":"68","author":"Howell","year":"1986","journal-title":"J Bone Joint Surg Br"},{"key":"10.1016\/j.ejmg.2019.103830_bib5","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1097\/BPO.0000000000000330","article-title":"'Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations","volume":"35","author":"Hufeland","year":"2015","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ejmg.2019.103830_bib6","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1111\/j.1365-2443.2008.01170.x","article-title":"Trps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells","volume":"13","author":"Itoh","year":"2008","journal-title":"Genes Cells"},{"key":"10.1016\/j.ejmg.2019.103830_bib7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1086\/316926","article-title":"'Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III'","volume":"68","author":"Ludecke","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2019.103830_bib8","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.ejmg.2015.03.002","article-title":"'Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome","volume":"58","author":"Maas","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.103830_bib9","first-page":"465","article-title":"'Should patients with trichorhinophalangeal syndrome be tested for growth hormone deficiency?","volume":"13","author":"Marques","year":"2015","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"10.1016\/j.ejmg.2019.103830_bib10","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1687-9856-2014-16","article-title":"'A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature","author":"Merjaneh","year":"2014","journal-title":"Int. J. Pediatr. Endocrinol."},{"key":"10.1016\/j.ejmg.2019.103830_bib11","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1440-1673.1985.tb01685.x","article-title":"'Tricho-rhino-phalangeal syndrome I (report of 8 cases)","volume":"29","author":"Morris","year":"1985","journal-title":"Australas. Radiol."},{"key":"10.1016\/j.ejmg.2019.103830_bib12","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s002470050481","article-title":"Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation","volume":"28","author":"Naselli","year":"1998","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ejmg.2019.103830_bib13","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.bone.2008.03.009","article-title":"Trps1 deficiency enlarges the proliferative zone of growth plate cartilage by upregulation of Pthrp","volume":"43","author":"Nishioka","year":"2008","journal-title":"Bone"},{"key":"10.1016\/j.ejmg.2019.103830_bib14","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/ajmg.a.30374","article-title":"Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency","volume":"131","author":"Riedl","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.103830_bib15","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1111\/j.1399-0004.2010.01434.x","article-title":"'Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy","volume":"78","author":"Sarafoglou","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2019.103830_bib16","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.bone.2012.09.027","article-title":"Disruption of the insulin-like growth factor-1 gene in osteocytes impairs developmental bone growth in mice","volume":"52","author":"Sheng","year":"2013","journal-title":"Bone"},{"key":"10.1016\/j.ejmg.2019.103830_bib17","first-page":"307","article-title":"Clinical, biochemical, and genetic analysis of two Korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency","volume":"42","author":"Sohn","year":"2012","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.ejmg.2019.103830_bib18","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1002\/ajmg.a.32348","article-title":"'Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome","volume":"146A","author":"Stagi","year":"2008","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2019.103830_bib19","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.ydbio.2007.10.001","article-title":"Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling","volume":"312","author":"Suemoto","year":"2007","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ejmg.2019.103830_bib20","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/j.1525-1470.2009.00905.x","article-title":"A familial case of trichorhinophalangeal syndrome type I'","volume":"26","author":"Vaccaro","year":"2009","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ejmg.2019.103830_bib21","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ghir.2015.09.004","article-title":"'Regulation of skeletal growth and mineral acquisition by the GH\/IGF-1 axis: lessons from mouse models","volume":"28","author":"Yakar","year":"2016","journal-title":"Growth Hormone IGF Res."},{"key":"10.1016\/j.ejmg.2019.103830_bib22","doi-asserted-by":"crossref","first-page":"21926","DOI":"10.1074\/jbc.M112.340398","article-title":"Control of mesenchymal lineage progression by microRNAs targeting skeletal gene regulators Trps1 and Runx2","volume":"287","author":"Zhang","year":"2012","journal-title":"J. Biol. Chem."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219302034?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219302034?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:49:01Z","timestamp":1761709741000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721219302034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S1769721219302034"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.103830","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2019.103830","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103830"}}