{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T07:11:57Z","timestamp":1774768317552,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"3-4","license":[{"start":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T00:00:00Z","timestamp":1531785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Foundation Fighting Blindness Canada"},{"name":"Mira Godard Research Fund"},{"name":"Career Development Award from Foundation Fighting Blindness"},{"name":"Ophthalmology Research Fund"},{"name":"University of Toronto McLaughlin Centre Whole Genome Sequence Initiative"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may be due to mutations in more than one gene. We studied the case of a female child with a novel ciliopathy phenotype and identified two novel mutations in the gene <jats:italic>IFT80<\/jats:italic>. Previously, mutations in <jats:italic>IFT80<\/jats:italic> have been associated with a very narrow rib cage and failure of the lungs. Bone anomalies are also part of this <jats:italic>IFT80<\/jats:italic>\u2010condition but with no vision problems documented. Our case had none of the features known to be associated with <jats:italic>IFT80<\/jats:italic> mutations and had retinal degeneration (RD). This work broadens the <jats:italic>IFT80<\/jats:italic>\u2010phenotype spectrum and also shows RD can be a feature of many ciliopathies.<\/jats:p>","DOI":"10.1111\/cge.13408","type":"journal-article","created":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T07:15:49Z","timestamp":1529478949000},"page":"368-372","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>IFT80<\/i> mutations cause a novel complex ciliopathy phenotype with retinal degeneration"],"prefix":"10.1111","volume":"94","author":[{"given":"J.","family":"Moran","sequence":"first","affiliation":[{"name":"Program of Genetics and Genomic Biology SickKids Research Institute  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"G. 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