{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T01:47:43Z","timestamp":1764812863630},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,28]],"date-time":"2017-03-28T00:00:00Z","timestamp":1490659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["98\/16006\u20106","2015\/22145\u20106"],"award-info":[{"award-number":["98\/16006\u20106","2015\/22145\u20106"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["590148\/2011\u20107"],"award-info":[{"award-number":["590148\/2011\u20107"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec><jats:label \/><jats:p>Since most short\u2010rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer\u2013Langer syndrome or short\u2010rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as\u2010yet unproven ciliopathy. <jats:italic>IFT122<\/jats:italic> is a gene that encodes a protein responsible for the retrograde transport along the cilium; it has been associated with this group of skeletal dysplasias. To date, mutations in this gene were only found in Sensenbrenner syndrome. Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in <jats:italic>IFT122<\/jats:italic> ([c.3184G&gt;C];[c.3228dupG;c.3231_3233delCAT]) in a fetus with a typical phenotype of SRP\u2010IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38157","type":"journal-article","created":{"date-parts":[[2017,3,28]],"date-time":"2017-03-28T16:22:00Z","timestamp":1490718120000},"page":"1186-1189","source":"Crossref","is-referenced-by-count":17,"title":["Beemer\u2013Langer syndrome is a ciliopathy due to biallelic mutations in <i>IFT122<\/i>"],"prefix":"10.1002","volume":"173","author":[{"given":"Karina C.","family":"Silveira","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Skeletal Dysplasia Group University of Campinas (UNICAMP) Campinas S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina A.","family":"Moreno","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Skeletal Dysplasia Group University of Campinas (UNICAMP) Campinas S\u00e3o Paulo Brazil"},{"name":"Department of Medical Genetics Perinatal Genetic Program University of Campinas (UNICAMP) Campinas S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise P.","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Skeletal Dysplasia Group University of Campinas (UNICAMP) Campinas S\u00e3o Paulo Brazil"},{"name":"Department of Medical Genetics Perinatal Genetic Program University of Campinas (UNICAMP) Campinas S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.44"},{"key":"e_1_2_7_3_1","first-page":"1","article-title":"Cranioectodermal dysplasia","volume":"1","author":"Arts H.","year":"2013","journal-title":"Gene Reviews"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140116"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069468"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.10.020"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100717"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/10445490150504684"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37570"},{"key":"e_1_2_7_12_1","first-page":"46","article-title":"Clinical genetics and pathobiology of ciliary chondrodysplasias","volume":"3","author":"Schmidts M.","year":"2014","journal-title":"Journal of Pediatric Genetics"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12215"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.012"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38157","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38157","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38157","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:47:39Z","timestamp":1693212459000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,28]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1002\/ajmg.a.38157"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38157","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,28]]}}}