{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T15:45:45Z","timestamp":1769010345970,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,12,22]],"date-time":"2015-12-22T00:00:00Z","timestamp":1450742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003206","name":"Alberta Children's Hospital Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003206","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Obrien Centre Summer Studentship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Ciliopathies are a class of clinically and genetically heterogeneous disorders characterized by deficits of the primary cilium, an important organelle for cellular signaling and development. Here we report on a patient from a consanguineous family presenting with renal cysts, short stature, distinctive facial features, missing teeth, brachydactyly, narrow chest, and abnormal ribs. His phenotype resembled a skeletal ciliopathy and the initial clinical differential diagnosis included Jeune thoracic dystrophy and cranioectodermal dysplasia. Due to the presence of parental consanguinity, a homozygous recessive mutation was the suspected cause and homozygosity mapping was used to direct candidate gene sequencing. <jats:italic>WDR35<\/jats:italic>, an intraflagellar transport protein previously associated with cranioectodermal dysplasia, the more severe short rib polydactyly syndrome type V and recently Ellis van Creveld syndrome, is present within a region of homozygosity and sequencing of all coding exons identified a novel homozygous nonsynonymous variant, p.Trp1153Cys. This variant affects a highly conserved tryptophan residue, is predicted to be deleterious, and is the most distal mutation yet reported in <jats:italic>WDR35<\/jats:italic>. This case expands the spectrum of phenotypes caused by <jats:italic>WDR35<\/jats:italic> mutations, which we review herein. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37514","type":"journal-article","created":{"date-parts":[[2015,12,22]],"date-time":"2015-12-22T13:07:12Z","timestamp":1450789632000},"page":"760-765","source":"Crossref","is-referenced-by-count":11,"title":["A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in <i>WDR35<\/i>"],"prefix":"10.1002","volume":"170","author":[{"given":"Christopher","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine University of Calgary Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan E.","family":"Lamont","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute Calgary Albeta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Wade","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cumming School of Medicine University of Calgary Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francois P.","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute Calgary Albeta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jillian S.","family":"Parboosingh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute Calgary Albeta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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