{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T09:13:44Z","timestamp":1791105224187,"version":"4.1.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2003,11,1]],"date-time":"2003-11-01T00:00:00Z","timestamp":1067644800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3548,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2003,11]]},"DOI":"10.1086\/379381","type":"journal-article","created":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T11:58:08Z","timestamp":1066996688000},"page":"1120-1130","source":"Crossref","is-referenced-by-count":122,"title":["Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation"],"prefix":"10.1016","volume":"73","author":[{"given":"Kathryn P.","family":"Burdon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James D.","family":"McKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le M.","family":"Sale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle M.","family":"Russell-Eggitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Gabriela","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Nicoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesel M.","family":"FitzGerald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James M.","family":"Stankovich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie A.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiwani","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srecko","family":"Gajovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Gruss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelley","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne K.","family":"Voss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"G\u00e9cz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/379381_bib6","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1006\/jmbi.1997.0951","article-title":"Prediction of complete gene structures in human genomic DNA","volume":"268","author":"Burge","year":"1997","journal-title":"J Mol Biol"},{"key":"10.1086\/379381_bib7","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/35088558","article-title":"Monogenic causes of X-linked mental retardation","volume":"2","author":"Chelly","year":"2001","journal-title":"Nat Rev Genet"},{"key":"10.1086\/379381_bib8","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/379381_bib9","doi-asserted-by":"crossref","first-page":"3065","DOI":"10.1242\/dev.124.16.3065","article-title":"Mouse Dll3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo","volume":"124","author":"Dunwoodie","year":"1997","journal-title":"Development"},{"key":"10.1086\/379381_bib10","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1017\/S0016672300035242","article-title":"Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus","volume":"56","author":"Favor","year":"1990","journal-title":"Genet Res"},{"key":"10.1086\/379381_bib11","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.39.2.105","article-title":"A locus for isolated cataract on human Xp","volume":"39","author":"Francis","year":"2002","journal-title":"J Med Genet"},{"key":"10.1086\/379381_bib12","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1093\/hmg\/8.2.165","article-title":"Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations","volume":"8","author":"Hanson","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/379381_bib13","first-page":"98","article-title":"X-linked cataract and hutchinsonian teeth","volume":"10","author":"Horan","year":"1974","journal-title":"Aust Paediatr J"},{"key":"10.1086\/379381_bib14","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/hmg\/11.1.33","article-title":"Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma","volume":"11","author":"Jamieson","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1086\/379381_bib15","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1086\/301592","article-title":"Allele-sharing models: LOD scores and accurate linkage tests","volume":"61","author":"Kong","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/379381_bib16","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":"10.1086\/379381_bib17","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/hmg\/6.5.665","article-title":"Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2","volume":"6","author":"Litt","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/379381_bib18","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":"10.1086\/379381_bib19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0097-8485(01)00099-7","article-title":"Application of a time-delay neural network to promoter annotation in the Drosophila melanogaster genome","volume":"26","author":"Reese","year":"2001","journal-title":"Comput Chem"},{"key":"10.1086\/379381_bib20","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/0092-8674(91)90245-T","article-title":"Two interdependent basic domains in nucleoplasmin nuclear targeting sequence: Identification of a class of bipartite nuclear targeting sequence","volume":"64","author":"Robbins","year":"1991","journal-title":"Cell"},{"key":"10.1086\/379381_bib21","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/527","article-title":"A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD","volume":"19","author":"Semina","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/379381_bib22","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1038\/ng0296-212","article-title":"Mutations in the founder of the MIP gene family underlie cataract development in the mouse","volume":"12","author":"Shiels","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/379381_bib23","doi-asserted-by":"crossref","first-page":"6592","DOI":"10.1073\/pnas.92.14.6592","article-title":"Capturing genes encoding membrane and secreted proteins important for mouse development","volume":"92","author":"Skarnes","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/379381_bib24","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/ng0795-307","article-title":"Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts","volume":"10","author":"Stambolian","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/379381_bib25","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":"10.1086\/379381_bib26","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1242\/dev.127.12.2537","article-title":"Querkopf, a MYST family histone acetyltransferase, is required for normal cerebral cortex development","volume":"127","author":"Thomas","year":"2000","journal-title":"Development"},{"key":"10.1086\/379381_bib27","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":"10.1086\/379381_bib28","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1038\/sj.ejhg.5200846","article-title":"Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes","volume":"10","author":"Toutain","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/379381_bib29","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":"10.1086\/379381_bib30","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/(SICI)1097-0177(199806)212:2<171::AID-AJA3>3.0.CO;2-E","article-title":"Efficiency assessment of the gene trap approach","volume":"212","author":"Voss","year":"1998","journal-title":"Dev Dyn"},{"key":"10.1086\/379381_bib31","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"},{"key":"10.1086\/379381_bib32","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1007\/BF00205172","article-title":"Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome","volume":"86","author":"Zhu","year":"1990","journal-title":"Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707619740?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707619740?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,12]],"date-time":"2021-06-12T02:12:59Z","timestamp":1623463979000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707619740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,11]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2003,11]]}},"alternative-id":["S0002929707619740"],"URL":"https:\/\/doi.org\/10.1086\/379381","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,11]]}}}