{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T18:46:58Z","timestamp":1770230818210,"version":"3.49.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1016\/j.gene.2013.03.094","type":"journal-article","created":{"date-parts":[[2013,4,6]],"date-time":"2013-04-06T10:46:24Z","timestamp":1365245184000},"page":"141-145","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["A Turkish family with Nance-Horan syndrome due to a novel mutation"],"prefix":"10.1016","volume":"525","author":[{"given":"Esra","family":"Tug","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nihal F.","family":"Dilek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahrbanou","family":"Javadiyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn P.","family":"Burdon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda E.","family":"Percin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"22","key":"10.1016\/j.gene.2013.03.094_bb0005","doi-asserted-by":"crossref","first-page":"4692","DOI":"10.1093\/nar\/25.22.4692","article-title":"Universal and rapid salt-extraction of high quality genomic DNA for PCR-based techniques","volume":"25","author":"Aljanabi","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2013.03.094_bb0010","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1399-0004.1984.tb00783.x","article-title":"The Nance-Horan Syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females","volume":"26","author":"Bixler","year":"1984","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0015","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1136\/jmg.2004.022517","article-title":"Identification of the gene for Nance-Horan Syndrome (NHS)","volume":"41","author":"Brooks","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0020","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1086\/379381","article-title":"Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome, including severe congenital cataract, dental anomalies, and mental retardation","volume":"73","author":"Burdon","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0025","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ejhg.2011.52","article-title":"The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly","volume":"19","author":"Chograni","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"issue":"14","key":"10.1016\/j.gene.2013.03.094_bb0030","doi-asserted-by":"crossref","first-page":"2643","DOI":"10.1093\/hmg\/ddp206","article-title":"X-linked cataract and Nance-Horan Syndrome are allelic disorders","volume":"18","author":"Coccia","year":"2009","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.gene.2013.03.094_bb0035","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1080\/13816810902822021","article-title":"Ophthalmic pathology of Nance-Horan Syndrome: case report and review of the literature","volume":"30","author":"Ding","year":"2009","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0040","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1038\/sj.ejhg.5201671","article-title":"New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands","volume":"14","author":"Florijn","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0045","first-page":"98","article-title":"X-linked cataract and Hutchinsonian teeth","volume":"10","author":"Horan","year":"1974","journal-title":"Aust. Paediatr. J."},{"key":"10.1016\/j.gene.2013.03.094_bb0050","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/hmg\/ddi449","article-title":"Xcat, a novel mouse model for Nance-Horan Syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform","volume":"15","author":"Huang","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0055","first-page":"470","article-title":"Identification of three novel NHS mutations in families with Nance-Horan Syndrome","volume":"13","author":"Huang","year":"2007","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2013.03.094_bb0060","first-page":"658","article-title":"Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan Syndrome","volume":"87","author":"Lewis","year":"1989","journal-title":"Trans. Am. Ophthalmol. Soc."},{"key":"10.1016\/j.gene.2013.03.094_bb0065","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/S0161-6420(90)32644-1","article-title":"Mapping X linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan Syndrome) to Xp22.2-p22.3","volume":"97","author":"Lewis","year":"1990","journal-title":"Ophthalmology"},{"key":"10.1016\/j.gene.2013.03.094_bb0070","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/jhg.2010.121","article-title":"Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan Syndrome","volume":"56","author":"Liao","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0075","first-page":"285","article-title":"Congenital X-linked cataract, dental anomalies and brachymetacarpalia","volume":"10","author":"Nance","year":"1974","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.gene.2013.03.094_bb0080","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1167\/iovs.04-0477","article-title":"Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan Syndrome in an Asian Indian family","volume":"46","author":"Ramprasad","year":"2005","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.gene.2013.03.094_bb0085","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/pd.1734","article-title":"Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan Syndrome in the extended family","volume":"27","author":"Reches","year":"2007","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.gene.2013.03.094_bb0090","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1093\/hmg\/ddl120","article-title":"Nance-Horan Syndrome protein, NHS, associates with epithelial cell junctions","volume":"15","author":"Sharma","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0095","first-page":"1856","article-title":"Novel causative mutations in patients with Nance-Horan Syndrome and altered localisation of the mutant NHS-A protein isoform","volume":"14","author":"Sharma","year":"2008","journal-title":"Mol. Vis."},{"key":"10.1016\/j.gene.2013.03.094_bb0100","doi-asserted-by":"crossref","first-page":"2358","DOI":"10.1016\/j.yexcr.2009.05.008","article-title":"NHS-A isoform of the NHS gene is a novel interactor of ZO-1","volume":"315","author":"Sharma","year":"2009","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.gene.2013.03.094_bb0105","first-page":"344","article-title":"Cataracts-oto-dental defects (Nance-Horan Syndrome)","volume":"33","author":"Sonoda","year":"2001","journal-title":"Ryoikibetsu Shokogun Shirizu"},{"key":"10.1016\/j.gene.2013.03.094_bb0110","first-page":"13","article-title":"Nance-Horan Syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis","volume":"47","author":"Stambolian","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0115","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<305::AID-AJMG11>3.0.CO;2-O","article-title":"Mental retardation in Nance-Horan Syndrome: clinical and neuropsychological assessment in four families","volume":"71","author":"Toutain","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0120","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/s004390050349","article-title":"Nance-Horan Syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region","volume":"99","author":"Toutain","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.03.094_bb0125","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1002\/ajmg.a.31572","article-title":"Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes","volume":"143","author":"Van Esch","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.03.094_bb0130","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1136\/jmg.27.10.632","article-title":"The Nance-Horan Syndrome","volume":"27","author":"Walpole","year":"1990","journal-title":"J. Med. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913003636?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913003636?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T21:32:23Z","timestamp":1758663143000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913003636"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["S0378111913003636"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.03.094","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Turkish family with Nance-Horan syndrome due to a novel mutation","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.03.094","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}