{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T00:38:45Z","timestamp":1725583125064},"reference-count":7,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,4]]},"DOI":"10.7759\/cureus.68670","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:31:33Z","timestamp":1725496293000},"source":"Crossref","is-referenced-by-count":0,"title":["Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome"],"prefix":"10.7759","author":[{"given":"Sruthi","family":"Suresh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hafsa Z","family":"Zuberi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Khandekar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily B","family":"Buchanan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karanjit S","family":"Kooner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.738","article-title":"A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome","volume":"25","author":"Jalili IK","year":"1988","unstructured":"Jalili IK, Smith NJ. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet. 1988, 25:738-40. 10.1136\/jmg.25.11.738","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105716","article-title":"Features, genetics and their correlation in Jalili syndrome: a systematic review","volume":"56","author":"Daneshmandpour Y","year":"2019","unstructured":"Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B. Features, genetics and their correlation in Jalili syndrome: a systematic review. J Med Genet. 2019, 56:358-69. 10.1136\/jmedgenet-2018-105716","journal-title":"J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.009","article-title":"Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta","volume":"84","author":"Parry DA","year":"2009","unstructured":"Parry DA, Mighell AJ, El-Sayed W, et al.. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009, 84:266-73. 10.1016\/j.ajhg.2009.01.009","journal-title":"Am J Hum Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2010.103","article-title":"Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs","volume":"24","author":"Jalili IK","year":"2010","unstructured":"Jalili IK. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (Lond). 2010, 24:1659-68. 10.1038\/eye.2010.103","journal-title":"Eye (Lond)"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2016.137","article-title":"A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome","volume":"30","author":"Rahimi-Aliabadi S","year":"2016","unstructured":"Rahimi-Aliabadi S, Daftarian N, Ahmadieh H, et al.. A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. Eye (Lond). 2016, 30:1424-32. 10.1038\/eye.2016.137","journal-title":"Eye (Lond)"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61484","article-title":"Expanding the genotypic spectrum of Jalili syndrome: novel CNNM4 variants and uniparental isodisomy in a North American patient cohort","volume":"182","author":"Prasov L","year":"2020","unstructured":"Prasov L, Ullah E, Turriff AE, et al.. Expanding the genotypic spectrum of Jalili syndrome: novel CNNM4 variants and uniparental isodisomy in a North American patient cohort. Am J Med Genet A. 2020, 182:493-7. 10.1002\/ajmg.a.61484","journal-title":"Am J Med Genet A"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2018.01.029","article-title":"Jalili syndrome: cross-sectional and longitudinal features of seven patients with cone-rod dystrophy and amelogenesis imperfecta","volume":"188","author":"Hirji N","year":"2018","unstructured":"Hirji N, Bradley PD, Li S, et al.. Jalili syndrome: cross-sectional and longitudinal features of seven patients with cone-rod dystrophy and amelogenesis imperfecta. Am J Ophthalmol. 2018, 188:123-30. 10.1016\/j.ajo.2018.01.029","journal-title":"Am J Ophthalmol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/186220-acute-angle-closure-glaucoma-in-a-patient-with-jalili-smith-syndrome","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:31:36Z","timestamp":1725496296000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/186220-acute-angle-closure-glaucoma-in-a-patient-with-jalili-smith-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,4]]},"references-count":7,"URL":"https:\/\/doi.org\/10.7759\/cureus.68670","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9,4]]}}}