{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T07:58:20Z","timestamp":1782547100619,"version":"3.54.5"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.ejmg.2024.104937","type":"journal-article","created":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T15:46:03Z","timestamp":1712072763000},"page":"104937","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants"],"prefix":"10.1016","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4852-0297","authenticated-orcid":false,"given":"Laura Krogh","family":"Herlin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten Krogh","family":"Herlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Blechingberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"R\u00f8nholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Graversen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrun A.J.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette Warming","family":"J\u00f8rgensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel Bach","family":"Hellfritzsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jannie Dahl","family":"Hald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Signe Sparre","family":"Beck-Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Gj\u00f8rup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian Nauheimer","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille Ax\u00e9l","family":"Gregersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Sommerlund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2024.104937_bib1","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s004390050512","article-title":"A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region","volume":"100","author":"Brandt","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib2","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.fertnstert.2014.04.043","article-title":"Mullerian duct anomalies diagnosed by saline contrast sonohysterography: prevalence in a general population","volume":"102","author":"Dreisler","year":"2014","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.ejmg.2024.104937_bib3","first-page":"475","article-title":"[Tricho-rhino-phalangeal syndrome]","volume":"21","author":"Giedion","year":"1966","journal-title":"Helv. Paediatr. Acta"},{"key":"10.1016\/j.ejmg.2024.104937_bib4","first-page":"595","article-title":"Tricho-rhino-phalangeal syndrome","volume":"118","author":"Gorlin","year":"1969","journal-title":"Am. J. Dis. Child."},{"key":"10.1016\/j.ejmg.2024.104937_bib5","first-page":"147","article-title":"Langer-giedion syndrome. Birth defects orig","volume":"10","author":"Hall","year":"1974","journal-title":"Artic. Ser."},{"key":"10.1016\/j.ejmg.2024.104937_bib6","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s100380200010","article-title":"Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes","volume":"47","author":"Hilton","year":"2002","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib7","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/sj.ejhg.5201094","article-title":"Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal","volume":"12","author":"Kaiser","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib8","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/154405910808701102","article-title":"Tricho-rhino-phalangeal syndrome with supernumerary teeth","volume":"87","author":"Kantaputra","year":"2008","journal-title":"J. Dent. Res."},{"key":"10.1016\/j.ejmg.2024.104937_bib9","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.103830","article-title":"The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: a case report and review of the literature","volume":"63","author":"Levy-Shraga","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib10","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":"L\u00fcdecke","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib11","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/hmg\/4.1.31","article-title":"Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome","volume":"4","author":"L\u00fcdecke","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib12","series-title":"Trichorhinophalangeal Syndrome","author":"Maas","year":"2017"},{"key":"10.1016\/j.ejmg.2024.104937_bib13","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.2024.104937_bib14","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1002\/ajmg.a.36327","article-title":"Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates","volume":"A 164A","author":"Macchiaiolo","year":"2014","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib15","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/71717","article-title":"Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I","volume":"24","author":"Momeni","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib16","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib17","doi-asserted-by":"crossref","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","author":"Sarafoglou","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2024.104937_bib18","doi-asserted-by":"crossref","first-page":"619","DOI":"10.3109\/0886022X.2014.882237","article-title":"Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation","volume":"36","author":"Tasic","year":"2014","journal-title":"Ren. Fail."},{"key":"10.1016\/j.ejmg.2024.104937_bib19","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.2024.104937_bib20","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.2017121265","article-title":"Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract","volume":"29","author":"van der Ven","year":"2018","journal-title":"J. Am. Soc. Nephrol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000296?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000296?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T20:34:56Z","timestamp":1718483696000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721224000296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":20,"alternative-id":["S1769721224000296"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104937","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104937","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104937"}}