{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:21:06Z","timestamp":1787761266000,"version":"build-2784847793"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:p>\n                    A 3-year-old girl presented with bilateral asymmetrical partial heterochromia of iris and fundus. The parents also complained of bilateral hearing loss in the child. Suspecting an auditory-pigmentary syndrome, systemic and genetic evaluation was performed. The child had profound sensory-neural hearing loss. Targeted gene sequencing revealed a novel nonsense variation in exon 9 of the\n                    <jats:italic toggle=\"yes\">MITF<\/jats:italic>\n                    gene (chr3:70008440A&gt;T) that was pathogenic for Waardenburg syndrome (WS) type 2A. This case highlights the characteristics of the iris and fundus hypochromia, which may provide a clue toward the diagnosis of WS.\n                  <\/jats:p>","DOI":"10.4103\/ijo.ijo_181_19","type":"journal-article","created":{"date-parts":[[2019,8,26]],"date-time":"2019-08-26T03:09:46Z","timestamp":1566788986000},"page":"1481-1483","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation"],"prefix":"10.4103","volume":"67","author":[{"given":"Devesh","family":"Kumawat","sequence":"first","affiliation":[{"name":"Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinod","family":"Kumar","sequence":"additional","affiliation":[{"name":"Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranita","family":"Sahay","sequence":"additional","affiliation":[{"name":"Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grisilda","family":"Nongrem","sequence":"additional","affiliation":[{"name":"Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parijat","family":"Chandra","sequence":"additional","affiliation":[{"name":"Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20251013","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gr\u00f8nskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"R2-20251013","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C","article-title":"Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism","volume":"13","author":"Oetting","year":"1999","journal-title":"Hum Mutat [Internet]"},{"key":"R3-20251013","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/jmg.34.8.656","article-title":"Waardenburg syndrome","volume":"34","author":"Read","year":"1997","journal-title":"J Med Genet"},{"key":"R4-20251013","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1146\/annurev.genet.38.072902.092717","article-title":"Melanocytes and the microphthalmia transcription factor network","volume":"38","author":"Steingr\u00edmsson","year":"2004","journal-title":"Annu Rev Genet"},{"key":"R5-20251013","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/humu.21211","article-title":"Review and update of mutations causing Waardenburg syndrome","volume":"31","author":"Pingault","year":"2010","journal-title":"Hum Mutat"}],"container-title":["Indian Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijo.IJO_181_19","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:30:12Z","timestamp":1787758212000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijo.IJO_181_19"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.4103\/ijo.ijo_181_19","relation":{},"ISSN":["0301-4738","1998-3689"],"issn-type":[{"value":"0301-4738","type":"print"},{"value":"1998-3689","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"2019-01-21","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-04","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}