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The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end\u2010stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35734","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T02:54:31Z","timestamp":1363229671000},"page":"829-834","source":"Crossref","is-referenced-by-count":15,"title":["GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer"],"prefix":"10.1002","volume":"161","author":[{"given":"Banu","family":"Bozkurt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmut Selman","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Okka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclfidan","family":"Bitirgen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,12]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"484","article-title":"Et tilfaelde at total \u201cpseudoanodonti\u201d i forbindelse med kranie deformitet, dvaergvaekst og ectodermal dysplasi","volume":"55","author":"Anderson TH","year":"1947","journal-title":"Odontol Tilster"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32686"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190203"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32157"},{"key":"e_1_2_4_6_1","first-page":"501","article-title":"Le syndrome GAPO","volume":"127","author":"Goucha S","year":"2000","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-5155(98)00058-6"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32638"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833593d1"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260323"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02527.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580312"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100160110028"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01100.x"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810500229058"},{"key":"e_1_2_4_16_1","first-page":"Abstract 416","article-title":"The GAPO syndrome: A disorder of glycosaminoglycan metabolism","volume":"51","author":"Russell LJ","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580117"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470309"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2011.03550.x"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190202"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370210"}],"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.35734","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:30:30Z","timestamp":1697592630000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,12]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1002\/ajmg.a.35734"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35734","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,12]]}}}