{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T14:01:20Z","timestamp":1700056880063},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4279,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2\u2010oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients may be useful in discussing the prognosis for newly identified cases. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470419","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:34:21Z","timestamp":1118507661000},"page":"534-539","source":"Crossref","is-referenced-by-count":12,"title":["DOOR syndrome (deafness, onycho\u2010osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases"],"prefix":"10.1002","volume":"47","author":[{"given":"Henry J.","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil D.","family":"Kakkis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna J.","family":"Eteson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_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_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1961.00740030518004"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1969.00770030476012"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190226"},{"key":"e_1_2_1_6_1","first-page":"310","article-title":"Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations","volume":"107","author":"Moghadam H","year":"1972","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130316"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260131"},{"key":"e_1_2_1_9_1","first-page":"41","volume-title":"The Hand in Radiologic Diagnosis","author":"Paznanski AK","year":"1974"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81101-4"},{"key":"e_1_2_1_11_1","first-page":"255","article-title":"Triphalangy of thumbs and great toes","volume":"120","author":"Qazi QH","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278719"},{"key":"e_1_2_1_13_1","first-page":"54","article-title":"Radiological findings in the DOOR syndrome","volume":"25","author":"Thomas PS","year":"1982","journal-title":"Ann Radiol"},{"key":"e_1_2_1_14_1","first-page":"101","article-title":"Surdite familiale avec osteo\u2010onycho\u2010dysplasie","volume":"18","author":"Walbaum R","year":"1970","journal-title":"J Genet Hum"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470419","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T12:20:32Z","timestamp":1698236432000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9,15]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,9,15]]}},"alternative-id":["10.1002\/ajmg.1320470419"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470419","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9,15]]}}}