{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:38:40Z","timestamp":1740141520724,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T00:00:00Z","timestamp":1497916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"King Salman Center for Disability Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Varadi syndrome is a subtype of orofaciodigital syndrome (OFDS) that combines the typical features of OFDS and the posterior fossa features of Joubert syndrome. The only gene known to be mutated in Varadi syndrome is <jats:italic>C5ORF42<\/jats:italic>. In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in <jats:italic>TCTN1<\/jats:italic> (NM_001082538.2:c.342\u20102A&gt;G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to <jats:italic>TCTN1<\/jats:italic> include Varadi syndrome, in addition to Joubert syndrome and Meckel\u2013Gruber syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38336","type":"journal-article","created":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T11:51:19Z","timestamp":1497959479000},"page":"2439-2441","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the allelic disorders linked to <i>TCTN1<\/i> to include Varadi syndrome (Orofaciodigital syndrome type VI)"],"prefix":"10.1002","volume":"173","author":[{"given":"Mohammad M.","family":"Al\u2010Qattan","sequence":"first","affiliation":[{"name":"Department of Surgery King Saudi University Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranad","family":"Shaheen","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"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"},{"name":"Saudi Human Genome Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,20]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22134"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.15537\/smj.2015.11.12446"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.03.004"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.891"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2774"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.160"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.813"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1385-1"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350310"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1363606"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1508-3"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21507"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1099-5"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.09.009"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.011"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.017"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.2.119"}],"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.38336","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38336","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T20:27:23Z","timestamp":1696537643000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,20]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1002\/ajmg.a.38336"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38336","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,6,20]]}}}