{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T16:23:44Z","timestamp":1784132624004,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,4,22]],"date-time":"2004-04-22T00:00:00Z","timestamp":1082592000000},"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":[[2004,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ\u2010domain protein), cadherin 23, protocadherin 15, sans (a scaffold\u2010like protein), usherin and clarin. Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types. The shaker\u20101, waltzer, Ames waltzer, and Jackson shaker mice provide murine models for four of the genetic forms of Usher syndrome. Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30052","type":"journal-article","created":{"date-parts":[[2004,4,22]],"date-time":"2004-04-22T16:57:58Z","timestamp":1082653078000},"page":"13-16","source":"Crossref","is-referenced-by-count":43,"title":["Genetic heterogeneity in Usher syndrome"],"prefix":"10.1002","volume":"130A","author":[{"given":"Bronya J.B.","family":"Keats","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevtap","family":"Savas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,4,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/321277"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/83837"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021502"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/79178"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdf689"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/83667"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/316954"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(83)90147-9"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.27"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5370.1753"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/374062a0"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200307"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6823"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/323610"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80120-X"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990924)89:3<158::AID-AJMG6>3.0.CO;2-#"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg042"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/302026"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/302332"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200303000-00015"},{"key":"e_1_2_6_22_1","first-page":"237","article-title":"Early diagnosis of Usher syndrome in children","volume":"98","author":"Mets MB","year":"2000","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_6_23_1","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1177\/0145482X9508900317","article-title":"Psychosocial implications of Usher syndrome, Type I, throughout life cycle","volume":"89","author":"Miner ID","year":"1995","journal-title":"J Vis Impairment Blindness"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0690-x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.2.1.271"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.256"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/302926"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0653-7"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.4.557"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.24.1.1"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.232579599"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500107"},{"key":"e_1_2_6_33_1","first-page":"130","article-title":"On the inheritance of retinitis pigmentosa, with notes of cases","volume":"19","author":"Usher CH","year":"1914","journal-title":"R Lond Ophthalmol Hosp Rep"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(69)90055-1"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/79171"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/374060a0"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg051"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0169(1998)40:3<261::AID-CM5>3.0.CO;2-G"},{"key":"e_1_2_6_39_1","first-page":"30","article-title":"Early diagnosis of Usher syndrome in infants and children","volume":"17","author":"Young NM","year":"1996","journal-title":"Am J Otol"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O"}],"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.30052","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30052","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T22:25:17Z","timestamp":1700173517000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30052"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,22]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,9,15]]}},"alternative-id":["10.1002\/ajmg.a.30052"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30052","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,22]]}}}