{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:38:10Z","timestamp":1790483890413,"version":"4.1.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"French Ministry of Health","award":["PHRC 09 109 01"],"award-info":[{"award-number":["PHRC 09 109 01"]}]},{"name":"Retina France Association"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.ejmg.2016.02.004","type":"journal-article","created":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T22:32:13Z","timestamp":1455057133000},"page":"215-218","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Incomplete penetrance of biallelic ALDH1A3 mutations"],"prefix":"10.1016","volume":"59","author":[{"given":"Julie","family":"Plaisanci\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Br\u00e9mond-Gignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Demeer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Gaston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Fares-Taie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Rozet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Calvas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2016.02.004_bib1","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1002\/humu.22580","article-title":"Mutations in ALDH1A3 represent a frequent cause of microphthalmia\/anophthalmia in consanguineous families","volume":"35","author":"Abouzeid","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2016.02.004_bib2","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/cge.12184","article-title":"Mutations in ALDH1A3 cause microphthalmia","volume":"84","author":"Aldahmesh","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib3","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<497::AID-AJMG8>3.0.CO;2-K","article-title":"Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain","volume":"75","author":"Bermejo","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib4","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1002\/humu.21590","article-title":"First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype","volume":"32","author":"Casey","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2016.02.004_bib5","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/cge.12275","article-title":"Molecular findings and clinical data in a cohort of 150 patients with anophthalmia\/microphthalmia","volume":"86","author":"Chassaing","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib6","doi-asserted-by":"crossref","first-page":"E673","DOI":"10.1002\/humu.21023","article-title":"Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia","volume":"30","author":"Chassaing","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2016.02.004_bib7","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/j.exer.2009.04.012","article-title":"Retinoic acid signaling in mammalian eye development","volume":"89","author":"Cvekl","year":"2009","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.ejmg.2016.02.004_bib8","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.cbi.2008.09.004","article-title":"Keeping an eye on retinoic acid signaling during eye development","volume":"178","author":"Duester","year":"2009","journal-title":"Chem. Biol. Interact."},{"key":"10.1016\/j.ejmg.2016.02.004_bib9","doi-asserted-by":"crossref","first-page":"14036","DOI":"10.1073\/pnas.2336223100","article-title":"A\u00a0newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment","volume":"100","author":"Dupe","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"10.1016\/j.ejmg.2016.02.004_bib10","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/ng1120","article-title":"Mutations in SOX2 cause anophthalmia","volume":"33","author":"Fantes","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib11","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.ajhg.2012.12.003","article-title":"ALDH1A3 mutations cause recessive anophthalmia and microphthalmia","volume":"92","author":"Fares-Taie","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/B978-0-12-385044-7.00003-5","article-title":"Eye morphogenesis and patterning of the optic vesicle","volume":"93","author":"Fuhrmann","year":"2010","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.ejmg.2016.02.004_bib13","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1179\/027249302125000193","article-title":"Environmental risk factors in congenital malformations of the eye","volume":"22","author":"Hornby","year":"2002","journal-title":"Ann. Trop. Paediatr."},{"key":"10.1016\/j.ejmg.2016.02.004_bib14","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.bbalip.2011.04.004","article-title":"Alcohol and aldehyde dehydrogenases: retinoid metabolic effects in mouse knockout models","volume":"1821","author":"Kumar","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ejmg.2016.02.004_bib15","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1242\/dev.02328","article-title":"Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning","volume":"133","author":"Molotkov","year":"2006","journal-title":"Development"},{"issue":"3","key":"10.1016\/j.ejmg.2016.02.004_bib16","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/ejhg.2013.157","article-title":"A\u00a0missense mutation in ALDH1A3 causes isolated microphthalmia\/anophthalmia in nine individuals from an inbred Muslim kindred","volume":"22","author":"Mory","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib17","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0925-4773(01)00561-5","article-title":"Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse","volume":"110","author":"Niederreither","year":"2002","journal-title":"Mech. Dev."},{"issue":"3","key":"10.1016\/j.ejmg.2016.02.004_bib18","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1111\/cge.12277","article-title":"A\u00a0homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia","volume":"86","author":"Roos","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib19","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1136\/bjophthalmol-2013-304058","article-title":"Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia\/microphthalmia","volume":"98","author":"Semerci","year":"2014","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.ejmg.2016.02.004_bib20","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ymgme.2011.09.029","article-title":"Eye development genes and known syndromes","volume":"104","author":"Slavotinek","year":"2011","journal-title":"Mol. Genet. Metab."},{"issue":"5","key":"10.1016\/j.ejmg.2016.02.004_bib21","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1016\/j.ajhg.2013.10.010","article-title":"Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic Hernia","volume":"93","author":"Srour","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib22","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-2-47","article-title":"Anophthalmia and microphthalmia","volume":"2","author":"Verma","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"issue":"8","key":"10.1016\/j.ejmg.2016.02.004_bib23","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ejmg.2014.05.002","article-title":"The genetic architecture of microphthalmia, anophthalmia and coloboma","volume":"57","author":"Williamson","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.004_bib24","doi-asserted-by":"crossref","first-page":"3250","DOI":"10.1093\/hmg\/ddt179","article-title":"ALDH1A3 loss of function causes bilateral anophthalmia\/microphthalmia and hypoplasia of the optic nerve and optic chiasm","volume":"22","author":"Yahyavi","year":"2013","journal-title":"Hum. Mol. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300155?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300155?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:05Z","timestamp":1761709385000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216300155"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["S1769721216300155"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.004","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Incomplete penetrance of biallelic ALDH1A3 mutations","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}