{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:52:03Z","timestamp":1788871923179,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,10]],"date-time":"2013-12-10T00:00:00Z","timestamp":1386633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100004919","name":"KACST","doi-asserted-by":"crossref","award":["09-MED941-20"],"award-info":[{"award-number":["09-MED941-20"]}],"id":[{"id":"10.13039\/501100004919","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Cranioectodermal dysplasia (\n                    <jats:styled-content style=\"fixed-case\">CED<\/jats:styled-content>\n                    ) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that\n                    <jats:styled-content style=\"fixed-case\">CED<\/jats:styled-content>\n                    is a ciliopathy. In a multiplex consanguineous family with typical\n                    <jats:styled-content style=\"fixed-case\">CED<\/jats:styled-content>\n                    features in addition to intellectual disability and severe cutis laxa, we used autozygosity\u2010guided candidate gene analysis to identify a novel homozygous mutation in\n                    <jats:italic>IFT122<\/jats:italic>\n                    , and demonstrated impaired ciliogenesis in patient fibroblasts. This report on\n                    <jats:italic>IFT122<\/jats:italic>\n                    broadens the phenotype of\n                    <jats:styled-content style=\"fixed-case\">CED<\/jats:styled-content>\n                    and expands its allelic heterogeneity.\n                  <\/jats:p>","DOI":"10.1002\/mgg3.44","type":"journal-article","created":{"date-parts":[[2013,12,10]],"date-time":"2013-12-10T08:40:46Z","timestamp":1386664846000},"page":"103-106","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Novel\n                    <i>IFT122<\/i>\n                    mutation associated with impaired ciliogenesis and cranioectodermal dysplasia"],"prefix":"10.1002","volume":"2","author":[{"given":"Anas M.","family":"Alazami","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Zain","family":"Seidahmed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatema","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam O.","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Guard Hospital Dammam Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0612s75"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33027"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33013"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80764-6"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.015"},{"key":"e_1_2_4_10_1","first-page":"372","article-title":"New syndrome of skeletal, dental and hair anomalies","volume":"11","author":"Sensenbrenner J. 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