{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T13:51:40Z","timestamp":1776433900645,"version":"3.51.2"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"crossref","award":["315908"],"award-info":[{"award-number":["315908"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in <jats:italic>TBC1D24<\/jats:italic>. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with <jats:italic>TBC1D24<\/jats:italic> mutations. Subsequent whole exome sequencing in the cohort showed the same de novo<jats:italic>SMARCB1<\/jats:italic> mutation (c.1130G&gt;A), known to cause Coffin\u2010Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy\u2010Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2\u2010oxoglutaric aciduria in the patients with the <jats:italic>SMARCB1<\/jats:italic> mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31412","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T16:43:11Z","timestamp":1409244191000},"page":"327-332","source":"Crossref","is-referenced-by-count":41,"title":["DOORS syndrome: Phenotype, genotype and comparison with Coffin\u2010Siris syndrome"],"prefix":"10.1002","volume":"166","author":[{"given":"Philippe M.","family":"Campeau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The DOORS syndrome collaborative group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,8,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22557"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70265-5"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/BF00281463","article-title":"Congenital sensori\u2010neural deafness associated with onycho\u2010osteo dystrophy and mental retardation (D.O.O.R. syndrome)","volume":"26","author":"Cantwell RJ","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.08.004"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220209"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.020"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1961.00740030518004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1969.00770030476012"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101313"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31674"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33574"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32054"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03236.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22318"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81101-4"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.004"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32956"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"},{"key":"e_1_2_6_24_1","first-page":"101","article-title":"[Familial deafness with osteo\u2010onycho\u2010dysplasia]","volume":"18","author":"Walbaum R","year":"1970","journal-title":"J Genet Hum"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04465.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22558"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T12:43:51Z","timestamp":1694609031000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,28]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.c.31412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31412","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,28]]}}}