{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T09:04:47Z","timestamp":1791104687015,"version":"4.1.0"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Molecular Genetics"],"published-print":{"date-parts":[[1998,7,1]]},"DOI":"10.1093\/hmg\/7.7.1113","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T22:20:49Z","timestamp":1027722049000},"page":"1113-1117","source":"Crossref","is-referenced-by-count":87,"title":["Mutation in the RIEG1 Gene in Patients with Iridogoniodysgenesis Syndrome"],"prefix":"10.1093","volume":"7","author":[{"given":"S. C.","family":"Kulak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. V.","family":"Semina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. G.","family":"Pearce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"1_37683541","first-page":"381","volume":"42","year":"1920","journal-title":"BER DTSCH OPHTHALMOL GES"},{"key":"2_25017786","first-page":"98","volume":"84","year":"1934","journal-title":"Z AUGENHEILK"},{"key":"3_24791088","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/BF01853793","volume":"133","year":"1935","journal-title":"Albrecht von Graefes Archiv f  r klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0065-6100","issn-type":"print"},{"key":"4_37683542","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/BF01854455","volume":"143","year":"1941","journal-title":"Albrecht von Graefes Archiv f  r klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0065-6100","issn-type":"print"},{"issue":"1","key":"5_4527544","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1136\/jmg.15.1.30","volume":"15","author":"Fitch","year":"1978","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"6_13111068","first-page":"736","volume":"81","author":"Shields","year":"1983","journal-title":"Transactions of the American Ophthalmological Society","ISSN":"https:\/\/id.crossref.org\/issn\/0065-9533","issn-type":"print"},{"key":"7_37683543","first-page":"387","volume":"29","year":"1985","journal-title":"A SPECTRUM OF DEVELOPMENTAL DISORDERS SURV OPHTHALMOL"},{"key":"8_37683544","first-page":"1425","volume":"4","year":"1995","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"11","key":"9_16535728","doi-asserted-by":"publisher","first-page":"1907","DOI":"10.1016\/S0161-6420(96)30408-9","volume":"103","author":"Walter","year":"1996","journal-title":"Ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0161-6420","issn-type":"print"},{"key":"10_37683545","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1111\/j.1755-3768.1932.tb07210.x","volume":"10","year":"1932","journal-title":"ERBLICHES JUGENDLICHES GLAUKOM ACTA OPHTHALMOL"},{"issue":"1","key":"11_12289120","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/0002-9394(72)91121-X","volume":"74","author":"Jerndal","year":"1972","journal-title":"American journal of ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9394","issn-type":"print"},{"issue":"7","key":"12_7738321","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1136\/bjo.53.7.433","volume":"53","author":"Weatherill","year":"1969","journal-title":"British Journal of Ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0007-1161","issn-type":"print"},{"issue":"6","key":"13_16531780","first-page":"1321","volume":"59","author":"Mears","year":"1996","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"4","key":"14_5786036","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1086\/514874","volume":"61","author":"Jordan","year":"1997","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"1","key":"15_8924043","first-page":"7","volume":"18","author":"Pearce","year":"1983","journal-title":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","ISSN":"https:\/\/id.crossref.org\/issn\/0008-4182","issn-type":"print"},{"key":"16_37683546","first-page":"645","volume":"35","year":"1983","journal-title":"A NEW CONCEPT OF HEREDITARY GLAUCOMA AM J HUM GENET"},{"issue":"1","key":"17_16866123","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1086\/513894","volume":"61","author":"Mirzayans","year":"1997","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"3","key":"18_5756369","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1016\/S0002-9297(07)64340-7","volume":"61","author":"Gould","year":"1997","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"1","key":"19_10238192","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/ng0992-46","volume":"2","author":"Murray","year":"1992","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"20_37683547","first-page":"137","volume":"13","year":"1992","journal-title":"THE SPECTRUM OF ASSOCIATED OCULAR AND SYSTEMIC MALFORMATIONS OPHTHALMIC PAEDIATR GENET"},{"issue":"3","key":"21_16355325","first-page":"613","volume":"59","author":"Phillips","year":"1996","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"4","key":"22_16536823","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1038\/ng1296-392","volume":"14","author":"Semina","year":"1996","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"1","key":"24_5326448","first-page":"25","volume":"989","author":"Scott","year":"1989","journal-title":"Biochimica et Biophysica Acta. Protein Structure and Molecular Enzymology","ISSN":"https:\/\/id.crossref.org\/issn\/0006-3002","issn-type":"print"},{"issue":"3","key":"25_9205022","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/0092-8674(90)90453-L","volume":"63","author":"Kissinger","year":"1990","journal-title":"Cell","ISSN":"https:\/\/id.crossref.org\/issn\/0092-8674","issn-type":"print"},{"issue":"11","key":"26_16535728","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1016\/S0161-6420(96)30408-9","volume":"103","year":"1996","journal-title":"Ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0161-6420","issn-type":"print"},{"issue":"7","key":"27_14032511","first-page":"291","volume":"21","author":"Pearce","year":"1986","journal-title":"Canadian journal of ophthalmology. Journal canadien d'ophtalmologie","ISSN":"https:\/\/id.crossref.org\/issn\/0008-4182","issn-type":"print"},{"issue":"4","key":"28_16593806","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1006\/mcne.1996.0062","volume":"8","author":"Muccielli","year":"1996","journal-title":"Molecular and cellular neurosciences","ISSN":"https:\/\/id.crossref.org\/issn\/1044-7431","issn-type":"print"},{"issue":"8","key":"29_9008160","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1136\/bjo.67.8.529","volume":"67","author":"Chisholm","year":"1983","journal-title":"British Journal of Ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0007-1161","issn-type":"print"},{"issue":"3","key":"30_16002069","first-page":"539","volume":"57","author":"Mirzayans","year":"1995","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"10","key":"31_16224073","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1101\/gad.10.10.1284","volume":"10","author":"Lamonerie","year":"1996","journal-title":"Genes & Development","ISSN":"https:\/\/id.crossref.org\/issn\/0890-9369","issn-type":"print"},{"issue":"6508","key":"32_15699811","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1038\/372780a0","volume":"372","author":"Jin","year":"1994","journal-title":"Nature","ISSN":"https:\/\/id.crossref.org\/issn\/0028-0836","issn-type":"print"},{"issue":"7","key":"33_23309307","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1002\/j.1460-2075.1993.tb05935.x","volume":"12","author":"Simeone","year":"1993","journal-title":"The EMBO Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0261-4189","issn-type":"print"},{"issue":"3","key":"34_44111755","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1093\/hmg\/6.3.457","volume":"6","year":"1997","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"15","key":"35_16354652","doi-asserted-by":"publisher","first-page":"7706","DOI":"10.1073\/pnas.93.15.7706","volume":"93","author":"Szeto","year":"1996","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"1","key":"36_16720003","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1006\/geno.1996.4558","volume":"40","author":"Shang","year":"1997","journal-title":"Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/7\/7\/1113\/1759228\/7-7-1113.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T23:39:44Z","timestamp":1704411584000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/7.7.1113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7,1]]},"references-count":35,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1998,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/7.7.1113","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,7,1]]}}}