{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:07:17Z","timestamp":1790024837487,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,15]],"date-time":"2016-03-15T00:00:00Z","timestamp":1458000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006143","name":"Department of Science and Technology, Government of Kerala","doi-asserted-by":"publisher","award":["SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100006143","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>Intraflagellar transport (<jats:styled-content style=\"fixed-case\">IFT<\/jats:styled-content>) is vital for the functioning of primary cilia. Defects in several components of <jats:styled-content style=\"fixed-case\">IFT<\/jats:styled-content> complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). Whole\u2010exome sequencing revealed a homozygous nonsense variant p.<jats:styled-content style=\"fixed-case\">R142<\/jats:styled-content>* in <jats:italic><jats:styled-content style=\"fixed-case\">IFT52<\/jats:styled-content><\/jats:italic> encoding an <jats:styled-content style=\"fixed-case\">IFT<\/jats:styled-content>\u2010B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with <jats:italic><jats:styled-content style=\"fixed-case\">IFT52<\/jats:styled-content><\/jats:italic>.<\/jats:p>","DOI":"10.1111\/cge.12762","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T09:06:40Z","timestamp":1455613600000},"page":"536-539","source":"Crossref","is-referenced-by-count":72,"title":["A homozygous nonsense variant in <i><scp>IFT52<\/scp><\/i> is associated with a human skeletal ciliopathy"],"prefix":"10.1111","volume":"90","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"K. M.","family":"Girisha","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal University  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal University  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Trujillano","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Centogene AG  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. S.","family":"Bhavani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal University  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hebbar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal University  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kadavigere","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis and Imaging, Kasturba Medical College Manipal University  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Rolfs","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Centogene AG  Rostock Germany"},{"name":"Albrecht\u2010Kossel\u2010Institute for Neuroregeneration Medical University Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"e_1_2_5_3_1","first-page":"46","article-title":"Clinical genetics and pathobiology of ciliary chondrodysplasias","volume":"3","author":"Schmidts M","year":"2014","journal-title":"J Pediatr Genet"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102838"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000360353"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201408002"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00485-7"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/148.1.187"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00484-5"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01894"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12762","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12762","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12762","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T14:01:30Z","timestamp":1694268090000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12762"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,15]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1111\/cge.12762"],"URL":"https:\/\/doi.org\/10.1111\/cge.12762","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,15]]}}}