{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:58:48Z","timestamp":1790855928460,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Four members of a three\u2010generation Czech family with early\u2010onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C&gt;T in\n                    <jats:italic>MIR204.<\/jats:italic>\n                    The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in\n                    <jats:italic>MIR204.<\/jats:italic>\n                    Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C&gt;T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic\n                    <jats:italic>OCA2<\/jats:italic>\n                    variants\n                    <jats:italic>.<\/jats:italic>\n                    Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C&gt;T variant in\n                    <jats:italic>MIR204<\/jats:italic>\n                    . Identification of a second independent family confirms the existence of a distinct\n                    <jats:italic>MIR204\u2010<\/jats:italic>\n                    associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.\n                  <\/jats:p>","DOI":"10.1111\/cge.14391","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T22:30:40Z","timestamp":1686868240000},"page":"418-426","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>\n                      <i>MIR204<\/i>\n                    <\/scp>\n                    n.\n                    <scp>37C<\/scp>\n                    &gt;T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early\u2010onset cataracts and congenital glaucoma"],"prefix":"10.1111","volume":"104","author":[{"given":"Jana","family":"Jedlickova","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vajter","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, First Faculty of Medicine Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Barta","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Faculty of Medicine Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme C. 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