{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T14:10:05Z","timestamp":1758982205544,"version":"3.44.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["aaojournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1016\/j.ophtha.2009.06.029","type":"journal-article","created":{"date-parts":[[2009,11,6]],"date-time":"2009-11-06T04:12:28Z","timestamp":1257480748000},"page":"154-158","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles"],"prefix":"10.1016","volume":"117","author":[{"given":"Arif O.","family":"Khan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dania S.","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Latifa J.","family":"Al Sharif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faisal E.","family":"Al-Ghadhfan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nada A.","family":"Al Tassan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2009.06.029_bib1","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0960-8966(03)00043-9","article-title":"110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs): Naarden, The Netherlands, 25\u201327 October, 2002","volume":"13","author":"Gutowski","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ophtha.2009.06.029_bib2","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/ng1261","article-title":"Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)","volume":"35","author":"Yamada","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib3","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ana.410410306","article-title":"Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles","volume":"41","author":"Engle","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ophtha.2009.06.029_bib4","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1167\/iovs.04-1125","article-title":"Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A","volume":"46","author":"Demer","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2009.06.029_bib5","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/ng744","article-title":"Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2","volume":"29","author":"Nakano","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib6","doi-asserted-by":"crossref","first-page":"4065","DOI":"10.1242\/dev.124.20.4065","article-title":"Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis","volume":"124","author":"Pattyn","year":"1997","journal-title":"Development"},{"key":"10.1016\/j.ophtha.2009.06.029_bib7","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.1093\/brain\/awl161","article-title":"Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A","volume":"129","author":"Bosley","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ophtha.2009.06.029_bib8","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1001\/archopht.125.2.189","article-title":"Genetic basis of congenital strabismus","volume":"125","author":"Engle","year":"2007","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.06.029_bib9","first-page":"102","article-title":"The developmental basis for germline mosaicism in mouse and Drosophila melanogaster","author":"Drost","year":"1998","journal-title":"Genetica"},{"key":"10.1016\/j.ophtha.2009.06.029_bib10","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s004390050708","article-title":"Germ line mosaicism","volume":"102","author":"Zlotogora","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib11","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nrg906","article-title":"Mechanisms and consequences of somatic mosaicism in humans","volume":"3","author":"Youssoufian","year":"2002","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib12","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.nmd.2008.09.016","article-title":"Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy","volume":"19","author":"Makri","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ophtha.2009.06.029_bib13","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/jmg.26.9.553","article-title":"Germinal mosaicism increases the recurrence risk for \u2018new\u2019 Duchenne muscular dystrophy mutations","volume":"26","author":"Bakker","year":"1989","journal-title":"J Med Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib14","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1136\/jmg.32.2.102","article-title":"Recurrence risk for germinal mosaics revisited","volume":"32","author":"van der Meulen","year":"1995","journal-title":"J Med Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib15","first-page":"26","article-title":"Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1","volume":"8","author":"Chan","year":"2007","journal-title":"BMC Genet [serial online]"},{"key":"10.1016\/j.ophtha.2009.06.029_bib16","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1080\/13816810701850058","article-title":"Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian peninsula","volume":"29","author":"Khan","year":"2008","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib17","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1167\/iovs.03-1413","article-title":"Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)","volume":"45","author":"Yamada","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2009.06.029_bib18","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/301766","article-title":"Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling","volume":"62","author":"Sippel","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib19","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.1002\/ajmg.a.31984","article-title":"Somatic and gonadal mosaicism in X-linked retinitis pigmentosa","volume":"143A","author":"Jin","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ophtha.2009.06.029_bib20","first-page":"995","article-title":"Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene","volume":"12","author":"Messina-Baas","year":"2006","journal-title":"Mol Vis [serial online]"},{"key":"10.1016\/j.ophtha.2009.06.029_bib21","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1086\/302309","article-title":"Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation","volume":"64","author":"Rantam\u00e4ki","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib22","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1086\/302322","article-title":"Germ-line mosaicism in tuberous sclerosis: how common?","volume":"64","author":"Rose","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib23","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1086\/302726","article-title":"Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents","volume":"66","author":"Sgambati","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2009.06.029_bib24","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1056\/NEJM199411243312102","article-title":"Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father","volume":"331","author":"L\u00e1zaro","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ophtha.2009.06.029_bib25","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1007\/s004390000378","article-title":"Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene","volume":"107","author":"Sestini","year":"2000","journal-title":"Hum Genet"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642009006575?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642009006575?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T13:57:57Z","timestamp":1758981477000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642009006575"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["S0161642009006575"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2009.06.029","relation":{},"ISSN":["0161-6420"],"issn-type":[{"type":"print","value":"0161-6420"}],"subject":[],"published":{"date-parts":[[2010,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2009.06.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}