{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T11:13:40Z","timestamp":1771672420949,"version":"3.50.1"},"reference-count":25,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"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","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1016\/j.ejmg.2017.01.007","type":"journal-article","created":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T13:46:05Z","timestamp":1484833565000},"page":"200-204","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia"],"prefix":"10.1016","volume":"60","author":[{"given":"Sezen Guntekin","family":"Ergun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guvem Gumus","family":"Akay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9696-0433","authenticated-orcid":false,"given":"Mehmet Ali","family":"Ergun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. Ferda","family":"Per\u00e7in","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.ejmg.2017.01.007_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."},{"issue":"4","key":"10.1016\/j.ejmg.2017.01.007_bib2","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1002\/jbmr.2403","article-title":"Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5","volume":"30","author":"Alonso","year":"2015","journal-title":"J.\u00a0Bone Min. Res."},{"issue":"6","key":"10.1016\/j.ejmg.2017.01.007_bib3","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1093\/hmg\/ddp008","article-title":"Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes","volume":"18","author":"Asai-Coakwell","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.01.007_bib4","first-page":"1483","article-title":"A\u00a0new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation","volume":"12","author":"Ayala-Ramirez","year":"2006","journal-title":"Mol. Vis."},{"issue":"8","key":"10.1016\/j.ejmg.2017.01.007_bib5","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1136\/bjo.83.8.919","article-title":"Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32","volume":"83","author":"Bessant","year":"1999","journal-title":"Br. J. Ophthalmol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.01.007_bib6","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."},{"issue":"2","key":"10.1016\/j.ejmg.2017.01.007_bib7","doi-asserted-by":"crossref","first-page":"60","DOI":"10.4161\/org.4.2.5850","article-title":"Wnt signaling in eye organogenesis","volume":"4","author":"Fuhrmann","year":"2008","journal-title":"Organogenesis"},{"issue":"3","key":"10.1016\/j.ejmg.2017.01.007_bib8","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ajhg.2011.02.006","article-title":"Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease","volume":"88","author":"Gal","year":"2011","journal-title":"Am J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.01.007_bib9","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1001\/archopht.1985.01050060045020","article-title":"Refractive development of the human eye","volume":"103","author":"Gordon","year":"1985","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.ejmg.2017.01.007_bib10","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1093\/ije\/25.5.1009","article-title":"The descriptive epidemiology of anophthalmia and Microphthalmia","volume":"25","author":"K\u00e4ll\u00e9n","year":"1996","journal-title":"Int. Epidemiol."},{"issue":"8","key":"10.1016\/j.ejmg.2017.01.007_bib11","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ejhg.2011.42","article-title":"Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)","volume":"19","author":"Laine","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.01.007_bib12","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.gene.2013.10.043","article-title":"A\u00a0novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency","volume":"534","author":"Macchiaroli","year":"2014","journal-title":"Gene"},{"issue":"3","key":"10.1016\/j.ejmg.2017.01.007_bib13","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A\u00a0simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"issue":"6","key":"10.1016\/j.ejmg.2017.01.007_bib14","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/humu.21250","article-title":"Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP","volume":"31","author":"Nikopoulos","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2017.01.007_bib15","series-title":"GeneReviews\u00ae Seattle (WA)","year":"1993"},{"key":"10.1016\/j.ejmg.2017.01.007_bib16","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1038\/78071","article-title":"Human microphthalmia associated with mutations in the retinal homeobox gene CHX10","volume":"25","author":"Percin","year":"2000","journal-title":"Nat. Gen."},{"issue":"12","key":"10.1016\/j.ejmg.2017.01.007_bib17","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1001\/jamaophthalmol.2013.5305","article-title":"Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum","volume":"131","author":"Skalicky","year":"2013","journal-title":"JAMA Ophthalmol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.01.007_bib18","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":"2","key":"10.1016\/j.ejmg.2017.01.007_bib19","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-2-47","article-title":"Anophthalmia and microphthalmia. Fitzpatrick DR","volume":"26","author":"Verma","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"issue":"4","key":"10.1016\/j.ejmg.2017.01.007_bib20","doi-asserted-by":"crossref","first-page":"634","DOI":"10.2174\/138161213804581837","article-title":"Wnt\/beta-catenin signaling and small molecule inhibitors","volume":"19","author":"Voronkov","year":"2013","journal-title":"Curr. Pharm. Des."},{"issue":"3","key":"10.1016\/j.ejmg.2017.01.007_bib21","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/hmg\/ddh025","article-title":"Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea","volume":"13","author":"Voronina","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.01.007_bib22","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1001\/archopht.1989.01070020703032","article-title":"Simple microphthalmos","volume":"107","author":"Weiss","year":"1989","journal-title":"Arch. Ophthalmol."},{"issue":"3","key":"10.1016\/j.ejmg.2017.01.007_bib23","doi-asserted-by":"crossref","first-page":"276","DOI":"10.3109\/13816810.2015.1016240","article-title":"Congenital bilateral retinal detachment in two Siblings with osteoporosis-pseudoglioma syndrome","volume":"36","author":"Welinder","year":"2015","journal-title":"Ophthalmic Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2017.01.007_bib24","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."},{"issue":"2","key":"10.1016\/j.ejmg.2017.01.007_bib25","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1093\/hmg\/ddp496","article-title":"Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies","volume":"19","author":"Ye","year":"2010","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:S176972121630516X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121630516X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:52Z","timestamp":1761709432000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121630516X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["S176972121630516X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.01.007","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}