{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T16:52:37Z","timestamp":1775926357014,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T00:00:00Z","timestamp":1471564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Recurrent 2.65\u2009Mb deletions of 8q13.2q13.3 encompassing <jats:italic>EYA1<\/jats:italic> have been recently described in the literature as a cause of branchio\u2010oto\u2010renal syndrome (BOR). Other clinical features of this recurrent microdeletion syndrome are still being delineated. We describe an additional patient with BOR due to microdeletion of 8q13.2q13.3. In addition to BOR related features, our patient presented with distal arthrogryposis that was detected prenatally, a phenotype that has not previously been described in patients with this deletion. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37695","type":"journal-article","created":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T13:07:32Z","timestamp":1471612052000},"page":"2984-2987","source":"Crossref","is-referenced-by-count":8,"title":["Review of the recurrent 8q13.2q13.3 branchio\u2010oto\u2010renal related microdeletion, and report of an additional case with associated distal arthrogryposis"],"prefix":"10.1002","volume":"170","author":[{"given":"Ping\u2010Yee Billie","family":"Au","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Calgary Alberta Canada"},{"name":"Department of Medical Genetics and Pediatrics Alberta Children's Hospital University of Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judy E.","family":"Chernos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Alberta Canada"},{"name":"Cytogenetics Laboratory Alberta Children's Hospital Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Ann","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Alberta Canada"},{"name":"Department of Medical Genetics and Pediatrics Alberta Children's Hospital University of Calgary Alberta Canada"},{"name":"Cytogenetics Laboratory Alberta Children's Hospital Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.13.2247"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1338-8"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1101\/gad.14.10.1209","article-title":"The steroid receptor coactivator, GRIP\u20101, is necessary for MEF\u20102C\u2010dependent gene expression and skeletal muscle differentiation","volume":"14","author":"Chen SL","year":"2000","journal-title":"Genes Dev"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-014-0090-9"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/513322"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.012"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-4111"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308475101"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33686"}],"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.37695","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37695","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T03:13:08Z","timestamp":1696648388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,19]]},"references-count":9,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/ajmg.a.37695"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37695","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,19]]}}}