{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081592,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT1185477"],"award-info":[{"award-number":["GNT1185477"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Genetic testing for paediatric cataract detects a cause in 50%\u201370% of affected children but is as low as 20% in some reports. We screened 180 cataract\u2010related genes in 22 children (from 20 families) with paediatric cataract from Myanmar using whole\u2010exome sequencing. Pathogenic or likely pathogenic variants were identified in 45% (9\/20) of probands in genes\n                    <jats:italic>MIP, COL2A1<\/jats:italic>\n                    ,\n                    <jats:italic>NHS, GJA8, GJA3, CRYGC, CRYBB2, PAX6<\/jats:italic>\n                    and\n                    <jats:italic>SLC7A8.<\/jats:italic>\n                    Variants of uncertain significance likely to be important were identified in three children for a maximum diagnostic rate of 12\/20 probands (60%) comparable to other reports. This is the first study to examine the genetics of paediatric cataract in Myanmar.\n                  <\/jats:p>","DOI":"10.1111\/cge.14755","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T21:04:46Z","timestamp":1744664686000},"page":"457-462","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of Genetic Variants Causing Paediatric Cataract in Myanmar"],"prefix":"10.1111","volume":"108","author":[{"given":"Johanna L.","family":"Jones","sequence":"first","affiliation":[{"name":"Menzies Institute for Medical Research University of Tasmania  Hobart Tasmania Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisy","family":"Boardman","sequence":"additional","affiliation":[{"name":"Menzies Institute for Medical Research University of Tasmania  Hobart Tasmania 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