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The disease was compatible with normal to mildly decreased visual acuity until adult life in all affected except the product of a consanguineous marriage of affected first cousins who was born with bilateral microphthalmos and dense congenital cataracts, attributed to homozygosity of the cataract gene. There were no extraocular abnormalities; the patient was of normal intelligence. Twenty\u2010three markers were typed, 18 of which were informative. Linkage could be excluded for all 18 markers at short distances.<\/jats:p>","DOI":"10.1002\/ajmg.1320370113","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:51:50Z","timestamp":1118548310000},"page":"54-59","source":"Crossref","is-referenced-by-count":14,"title":["Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts"],"prefix":"10.1002","volume":"37","author":[{"given":"Fred S.","family":"Bodker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Ann","family":"Lavery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas N.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Everett W.","family":"Lovrien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene H.","family":"Maumenee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(88)33153-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(86)90599-4"},{"key":"e_1_2_1_4_1","first-page":"403","article-title":"Mapping of X\u2010linked cataract\u2010dental syndrome","volume":"30","author":"Bond A","year":"1989","journal-title":"Invest Ophthalmol Vis [ARVO Suppl] Sci"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(63)93132-5"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6178163"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.1982.tb01623.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130957"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.61.3.949"},{"key":"e_1_2_1_10_1","first-page":"1","volume-title":"Congenital Cataract","author":"Fran\u00e7ois J","year":"1963"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3964960"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818609004137"},{"key":"e_1_2_1_13_1","first-page":"84","article-title":"\u00dcber Tetanie\u2010und Myotoniekatarakte","volume":"31","author":"Heine L","year":"1923","journal-title":"Z Exp Med"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.2.113"},{"key":"e_1_2_1_15_1","first-page":"595","article-title":"The relationship of lenticular changes to mongolism","volume":"49","author":"Igersheimer J","year":"1952","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(69)94582-6"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2884728"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.2.489"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672300020668"},{"key":"e_1_2_1_20_1","first-page":"277","article-title":"Sequential tests for the detection of linkage","volume":"7","author":"Morton NE","year":"1955","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672300027129"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-4835(80)80051-0"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1266\/jjg.55.71"},{"key":"e_1_2_1_24_1","first-page":"39","article-title":"Variation in the expressivity of the gene ocular retardation in mice","volume":"17","author":"Osipov VV","year":"1983","journal-title":"Tsitol Genet"},{"key":"e_1_2_1_25_1","first-page":"528","article-title":"A computer program for linkage analysis of general human pedigrees","volume":"28","author":"Ott J","year":"1976","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01028.x"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1987.01060100084032"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1963.tb00782.x"},{"key":"e_1_2_1_29_1","first-page":"570","article-title":"Congenital cataract possibly linked to haptoglobin. 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