{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:09:05Z","timestamp":1790935745270,"version":"4.1.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4582,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,1]]},"DOI":"10.1086\/316926","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:54Z","timestamp":1027709274000},"page":"81-91","source":"Crossref","is-referenced-by-count":184,"title":["Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III"],"prefix":"10.1016","volume":"68","author":[{"given":"H.-J.","family":"L\u00fcdecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Schaper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Momeni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gro\u00df","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"von Holtum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hirche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Abramowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Albrecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Apacik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.-J.","family":"Christen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Claussen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Fastnacht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Forderer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Friedrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.H.J.","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Greiwe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hamm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.K.","family":"Hinkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hoeltzenbein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"McLeod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.T.","family":"Midro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Moog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Nagai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.H.","family":"\u00d8rstavik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Pl\u00f6chl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Seitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Schmidtke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tsukahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Wittwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Horsthemke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/316926_bib1","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s004390050512","article-title":"A de novo 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":"10.1086\/316926_bib2","doi-asserted-by":"crossref","first-page":"631","DOI":"10.2214\/ajr.129.4.631","article-title":"The trichorhinophalangeal syndrome: study of 16 patients in one family","volume":"129","author":"Felman","year":"1977","journal-title":"Am J Roentgenol"},{"key":"10.1086\/316926_bib3","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","article-title":"Nonsense-mediated mRNA decay in health and disease","volume":"8","author":"Frischmeyer","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/316926_bib4","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1148\/105.2.375","article-title":"Metacarpophalangeal length in the evaluation of skeletal malformation","volume":"105","author":"Garn","year":"1972","journal-title":"Radiology"},{"key":"10.1086\/316926_bib5","series-title":"Ergebnisse der medizinischen Radiologie","first-page":"59","article-title":"Zapfenepiphysen. Naturgeschichte und diagnostische Bedeutung einer St\u00f6rung des enchondralen Wachstums","author":"Giedion","year":"1968"},{"key":"10.1086\/316926_bib7","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s002470050460","article-title":"Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II","volume":"28","author":"Giedion","year":"1998","journal-title":"Pediatr Radiol"},{"key":"10.1086\/316926_bib6","first-page":"249","article-title":"Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome: report of 4 unrelated families, review of 60 cases","volume":"28","author":"Giedion","year":"1973","journal-title":"Helv Paediatr Acta"},{"key":"10.1086\/316926_bib8","series-title":"Radiographic atlas of skeletal development of the hand and wrist","author":"Greulich","year":"1959"},{"key":"10.1086\/316926_bib9","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1007\/BF02034746","article-title":"Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion","volume":"149","author":"Hamers","year":"1990","journal-title":"Eur J Pediatr"},{"key":"10.1086\/316926_bib10","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/j.1399-0004.1991.tb03049.x","article-title":"IBM-PC compatible software for establishing metacarpophalangeal pattern profiles","volume":"39","author":"Hosenfeld","year":"1991","journal-title":"Clin Genet"},{"key":"10.1086\/316926_bib11","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1159\/000246290","article-title":"Trichorhinophalangeal syndrome type III","volume":"193","author":"Itin","year":"1996","journal-title":"Dermatology"},{"key":"10.1086\/316926_bib12","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/ajmg.1320490323","article-title":"Tricho-rhino-phalangeal syndrome type III","volume":"49","author":"Kajii","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib13","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/ajmg.1320190110","article-title":"The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature","volume":"19","author":"Langer","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib15","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1007\/s004399900176","article-title":"Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8","volume":"105","author":"L\u00fcdecke","year":"1999","journal-title":"Hum Genet"},{"key":"10.1086\/316926_bib14","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":"10.1086\/316926_bib16","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ajmg.1320450411","article-title":"Tricho-rhino-phalangeal syndrome type I (TRPS I) due to an apparently balanced translocation involving 8q24","volume":"45","author":"Marchau","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib17","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":"10.1086\/316926_bib18","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ajmg.1320490307","article-title":"Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)","volume":"49","author":"Nagai","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib19","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1007\/s004390050420","article-title":"The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions","volume":"99","author":"Nardmann","year":"1997","journal-title":"Hum Genet"},{"key":"10.1086\/316926_bib20","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":"10.1086\/316926_bib22","first-page":"5","article-title":"Heights and weights of Turkish children","volume":"19","author":"Neyzi","year":"1973","journal-title":"J Trop Pediatr Environ Child Health"},{"key":"10.1086\/316926_bib21","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1002\/ajmg.1320240420","article-title":"The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III","volume":"24","author":"Niikawa","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1148\/104.1.1","article-title":"Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations","volume":"104","author":"Poznanski","year":"1972","journal-title":"Radiology"},{"key":"10.1086\/316926_bib25","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/s002470050152","article-title":"A bibliography covering the use of metacarpophalangeal pattern profile analysis in bone dysplasias, congenital malformation syndromes, and other disorders","volume":"27","author":"Poznanski","year":"1997","journal-title":"Pediatr Radiol"},{"key":"10.1086\/316926_bib24","first-page":"209","article-title":"The hand in the trichorhinophalangeal syndrome","volume":"10","author":"Poznanski","year":"1974","journal-title":"Birth Defects"},{"key":"10.1086\/316926_bib26","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1136\/jmg.34.4.335","article-title":"A 4 MB cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I","volume":"34","author":"Sasaki","year":"1997","journal-title":"J Med Genet"},{"key":"10.1086\/316926_bib27","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1002\/ajmg.1320190414","article-title":"Ruvalcaba syndrome: autosomal dominant inheritance","volume":"19","author":"Sugio","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib28","doi-asserted-by":"crossref","first-page":"5358","DOI":"10.1002\/j.1460-2075.1996.tb00920.x","article-title":"Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development","volume":"15","author":"Sun","year":"1996","journal-title":"EMBO J"},{"key":"10.1086\/316926_bib29","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<495::AID-AJMG12>3.0.CO;2-K","article-title":"Sporadic case of trichorhinophalangeal syndrome type III in a European patient","volume":"85","author":"Vilain","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/316926_bib30","series-title":"Growth diagrams 1965, Netherlands","author":"van Wieringen","year":"1971"},{"key":"10.1086\/316926_bib31","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/ajmg.1320320420","article-title":"Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I","volume":"32","author":"Yamamoto","year":"1989","journal-title":"Am J Med Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707624732?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707624732?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T04:38:44Z","timestamp":1583296724000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707624732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,1]]}},"alternative-id":["S0002929707624732"],"URL":"https:\/\/doi.org\/10.1086\/316926","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}