{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T04:22:49Z","timestamp":1789878169755,"version":"4.0.1"},"reference-count":10,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaapos.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of American Association for Pediatric Ophthalmology and Strabismus"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1016\/j.jaapos.2015.04.011","type":"journal-article","created":{"date-parts":[[2015,10,20]],"date-time":"2015-10-20T10:58:48Z","timestamp":1445338728000},"page":"463-465","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Recessive COL25A1 mutations cause isolated congenital ptosis or\u00a0exotropic Duane syndrome with synergistic divergence"],"prefix":"10.1016","volume":"19","author":[{"given":"Arif O.","family":"Khan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Al-Mesfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaapos.2015.04.011_bib1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.ajhg.2014.11.006","article-title":"Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder","volume":"96","author":"Shinwari","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaapos.2015.04.011_bib2","first-page":"362","article-title":"The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder","volume":"18","author":"Khan","year":"2014","journal-title":"J\u00a0AAPOS"},{"key":"10.1016\/j.jaapos.2015.04.011_bib3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.cell.2009.12.011","article-title":"Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance","volume":"140","author":"Tischfield","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.jaapos.2015.04.011_bib4","first-page":"1150","article-title":"A\u00a0gene for isolated\u00a0congenital ptosis maps to a 3-cM region within 1p32-p34.1","volume":"60","author":"Engle","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaapos.2015.04.011_bib5","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1086\/302860","article-title":"A\u00a0novel X-linked dominant condition: X-linked congenital isolated ptosis","volume":"66","author":"McMullan","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaapos.2015.04.011_bib6","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1126\/science.1156121","article-title":"Human CHN1 mutations hyperactivate\u00a0alpha2-chimaerin and cause Duane\u2019s retraction syndrome","volume":"321","author":"Miyake","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.jaapos.2015.04.011_bib7","doi-asserted-by":"crossref","first-page":"6321","DOI":"10.1167\/iovs.11-7950","article-title":"Expansion of the CHN1 strabismus\u00a0phenotype","volume":"52","author":"Miyake","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jaapos.2015.04.011_bib8","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1086\/343821","article-title":"Duane radial ray syndrome\u00a0(Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family","volume":"71","author":"Al-Baradie","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaapos.2015.04.011_bib9","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/ng1636","article-title":"Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development","volume":"37","author":"Tischfield","year":"2005","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaapos.2015.04.011_bib10","doi-asserted-by":"crossref","first-page":"5213","DOI":"10.1167\/iovs.08-2928","article-title":"Synergistic divergence: a distinct ocular motility dysinnervation pattern","volume":"50","author":"Oystreck","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Journal of American Association for Pediatric Ophthalmology and Strabismus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1091853115005091?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1091853115005091?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T20:21:18Z","timestamp":1761078078000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1091853115005091"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["S1091853115005091"],"URL":"https:\/\/doi.org\/10.1016\/j.jaapos.2015.04.011","relation":{},"ISSN":["1091-8531"],"issn-type":[{"value":"1091-8531","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recessive COL25A1 mutations cause isolated congenital ptosis or\u00a0exotropic Duane syndrome with synergistic divergence","name":"articletitle","label":"Article Title"},{"value":"Journal of American Association for Pediatric Ophthalmology and Strabismus","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaapos.2015.04.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}