{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T18:14:20Z","timestamp":1785176060261,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5150,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X\u2010linked congenital nystagmus with an affected woman. She was a (46,XX\/45,X) mosaic. Magnetic resonance images of the brain of affected individuals were normal.<\/jats:p>","DOI":"10.1002\/ajmg.1320390210","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:21:32Z","timestamp":1118546492000},"page":"167-169","source":"Crossref","is-referenced-by-count":8,"title":["Congenital nystagmus in a (46, XX\/45,X) mosaic woman from a family with X\u2010linked congenital nystagmus"],"prefix":"10.1002","volume":"39","author":[{"given":"David H.","family":"Gutmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"408","article-title":"Frequent alterations of visual pigment genes in adrenoleukodystrophy","volume":"42","author":"Aubourg PR","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1093\/oxfordjournals.jhered.a105120","article-title":"Nystagmus through four generations","volume":"33","author":"Billings ML","year":"1942","journal-title":"J Hered"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1182\/blood.V36.2.169.169","article-title":"Variant of factor IX deficiency in a female with 45X Turner's syndrome","volume":"36","author":"Bithell TC","year":"1970","journal-title":"Blood"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1974.01010010378002"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020020325008"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196512232732602"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360222"},{"key":"e_1_2_1_9_1","volume-title":"The Inherited Ataxias","author":"Harding AE","year":"1984"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818609058045"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.20.8128"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274683"},{"key":"e_1_2_1_13_1","first-page":"A95","article-title":"Mapping the locus for X\u2010linked ocular albinism","volume":"37","author":"Kidd JR","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160603"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90114-6"},{"key":"e_1_2_1_16_1","first-page":"380","article-title":"Fertility in women with Turner's syndrome","volume":"20","author":"Nielsen J","year":"1981","journal-title":"Clin Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00170.x"},{"key":"e_1_2_1_18_1","first-page":"1","article-title":"Congenital nystagmus\u2010genetic and environmental causes","volume":"13","author":"Pearce WG","year":"1978","journal-title":"Can J Ophthalmol"},{"key":"e_1_2_1_19_1","first-page":"52","article-title":"Sex\u2010linked nystagmus associated with red\u2010green color blindness","volume":"1","author":"Rucker CW","year":"1949","journal-title":"J Hum Genet"},{"key":"e_1_2_1_20_1","first-page":"444","article-title":"X\u2010linked congenital nystagmus","volume":"8","author":"Schneiderman LJ","year":"1976","journal-title":"Ann Ophthalmol"},{"key":"e_1_2_1_21_1","first-page":"A95","article-title":"Ocular albinism, ichthyosis and delXp22","volume":"45","author":"Schnur RE","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01794681"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1970.tb01639.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1989.tb03332.x"},{"key":"e_1_2_1_25_1","first-page":"183","article-title":"Genetic studies of ocular albinism in a large Virginia kindred","volume":"16","author":"Szymanski KA","year":"1984","journal-title":"Ann Ophthalmol"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.23.9427"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1989.01070020236032"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390210","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T23:26:13Z","timestamp":1698017173000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,5]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,5]]}},"alternative-id":["10.1002\/ajmg.1320390210"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390210","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,5]]}}}