{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:44Z","timestamp":1747146164076,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of a female diagnosed with primary ciliary dyskinesia (PCD) type 21 with non\u2010previously reported extrapulmonary symptoms, including facial features and congenital vascular anomalies. Whole genome sequencing in our patient revealed a homozygous pathogenic variant in the <jats:italic>DRC1<\/jats:italic> gene and no other notable structural nor punctual variants. This case demonstrates a unique clinical manifestation of PCD, which is possibly associated with the presence of a homozygous pathogenic <jats:italic>DRC1<\/jats:italic> variant. Therefore, we suggest that analysis of <jats:italic>DRC1<\/jats:italic> be considered with PCD type 21 when such features are present.<\/jats:p>","DOI":"10.1002\/ajmg.a.62586","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T13:05:55Z","timestamp":1638363955000},"page":"965-969","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanded phenotype of primary ciliary dyskinesia related to <scp><i>DRC1<\/i><\/scp> pathogenic variant with dysmorphisms and vascular anomalies"],"prefix":"10.1002","volume":"188","author":[{"given":"Samuel","family":"LeBlanc","sequence":"first","affiliation":[{"name":"Centre de Formation M\u00e9dicale du Nouveau\u2010Brunswick Universit\u00e9 de Sherbrooke  Moncton New Brunswick Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric P.","family":"Allain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Vitalit\u00e9 Health Network Dr. Georges\u2010L.\u2010Dumont University Hospital Centre  Moncton New Brunswick Canada"},{"name":"Atlantic Cancer Research Institute Pavillon H\u00f4tel\u2010Dieu  Moncton New Brunswick Canada"},{"name":"Department of Chemistry and Biochemistry New Brunswick Center for Precision Medicine, Universit\u00e9 de Moncton  Moncton New Brunswick Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Girouard","sequence":"additional","affiliation":[{"name":"Department of Medical Microbiology and Infectious Diseases Vitalit\u00e9 Health Network, Dr. Georges\u2010L.\u2010Dumont University Hospital Centre  Moncton New Brunswick Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Mallet","sequence":"additional","affiliation":[{"name":"Department of Respirology Vitalit\u00e9 Health Network, Dr. Georges\u2010L.\u2010Dumont University Hospital Centre  Moncton New Brunswick Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3854-2871","authenticated-orcid":false,"given":"Mouna Ben","family":"Amor","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Vitalit\u00e9 Health Network Dr. Georges\u2010L.\u2010Dumont University Hospital Centre  Moncton New Brunswick Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084576"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/lungindia.lungindia_361_19"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1056"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.61.1.56"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1033"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.649038"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201301-0059CI"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-17-0584"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102755"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14269"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.838"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky922"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/028418514702800103"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2533"},{"volume-title":"Primary ciliary dyskinesia","year":"2007","author":"Zariwala M. A.","key":"e_1_2_8_16_1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62586","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62586","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62586","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:03:41Z","timestamp":1692576221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62586"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/ajmg.a.62586"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62586","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"2021-07-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}