{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T16:32:42Z","timestamp":1712161962865},"reference-count":27,"publisher":"Akademiai Kiado Zrt.","issue":"33","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>Primary congenital glaucoma was diagnosed in a son (born in 2009) of a healthy, non-consanguineous Roma couple. This couple terminated their next two pregnancies because of the 25% recurrence risk of this autosomal recessive ophthalmological abnormality. Molecular genetic analysis showed the homozygote E387K mutation of the CYP1B1 gene in the proband and the presence of this gene mutation in heterozygous form in both parents. This gene mutation is characteristic for Slovakian Roma population. There are two objectives of this case report. On one hand this finding indicates the genetic relationship of Slovakian and Hungarian Romas. On the other hand, the couple plans to have further pregnancies, and prenatal genetic test may help to assess the possible recurrence risk of this hereditary disease. Orv. Hetil., 2014, 155(33), 1325\u20131328.<\/jats:p>","DOI":"10.1556\/oh.2014.29960","type":"journal-article","created":{"date-parts":[[2014,8,11]],"date-time":"2014-08-11T01:00:44Z","timestamp":1407718844000},"page":"1325-1328","source":"Crossref","is-referenced-by-count":2,"title":["Homozygous E387K (1159G&gt;A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report"],"prefix":"10.1556","volume":"155","author":[{"given":"G\u00e1bor","family":"Vogt","sequence":"first","affiliation":[{"name":"Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont Szem\u00e9szeti Oszt\u00e1ly Budapest Podmaniczky u. 111. 1062"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u013dudevit\/Lajos","family":"K\u00e1dasi","sequence":"additional","affiliation":[{"name":"Institute of Molecular Physiology and Genetics Bratislava Szlov\u00e1kia"},{"name":"Comenius University Faculty of Natural Sciences Bratislava Szlov\u00e1kia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Endre","family":"Czeizel","sequence":"additional","affiliation":[{"name":"\u201eGenetikai \u00c1rtalmak T\u00e1rsadalmi Megel\u0151z\u00e9se\u201d Alap\u00edtv\u00e1ny Genetikai Tan\u00e1csad\u00f3 Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"<i>Vogt, G., Horv\u00e1th-Puho, E., Czeizel, A. 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