{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:21:34Z","timestamp":1759332094717},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,7,16]],"date-time":"2009-07-16T00:00:00Z","timestamp":1247702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Science Fund","award":["30725044"],"award-info":[{"award-number":["30725044"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked ocular albinism (OA1) is the most common form of ocular albinism. Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. However, OA1 has rarely been reported in China. Here, we report on a Chinese family with OA1 and partial deletion of <jats:italic>GPR143<\/jats:italic>. An unusual phenotype of iris hyperpigmentation without translucency was observed in the male patient and the carrier mother. There was apparent mosaic pigmentation of the fundus. Our results demonstrate atypical manifestation of OA1 that might enrich our knowledge of phenotypic variation of OA1 among the Chinese population. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32818","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T17:03:39Z","timestamp":1247850219000},"page":"1786-1788","source":"Crossref","is-referenced-by-count":13,"title":["Iris hyperpigmentation in a Chinese family with ocular albinism and the <i>GPR143<\/i> mutation"],"prefix":"10.1002","volume":"149A","author":[{"given":"Xueshan","family":"Xiao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingjiong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-13"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.4.222"},{"key":"e_1_2_6_4_1","first-page":"1974","article-title":"Novel GPR143 mutations and clinical characteristics in six Chinese families with X\u2010linked ocular albinism","volume":"14","author":"Fang S","year":"2008","journal-title":"Mol Vis"},{"key":"e_1_2_6_5_1","first-page":"1181","article-title":"A Japanese family of Nettleship Falls X\u2010linked ocular albinism","volume":"94","author":"Hayakawa M","year":"1990","journal-title":"Nippon Ganka Gakkai Zasshi"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(85)90077-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910060023005"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10034"},{"key":"e_1_2_6_9_1","first-page":"484","article-title":"Phenotypic variability in X\u2010linked ocular albinism: Relationship to linkage genotypes","volume":"55","author":"Schnur RE","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.79.2.139"}],"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.32818","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32818","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:23:44Z","timestamp":1697603024000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32818"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,16]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1002\/ajmg.a.32818"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32818","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,16]]}}}