{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T22:01:44Z","timestamp":1771106504657,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Nance\u2010Horan syndrome (NHS; OMIM 302350) is a rare, X\u2010linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade\u2010shaped incisors, facial anomalies, and intellectual disability. It is caused by deleterious loss of function variants or deletions involving the\n                    <jats:italic>NHS<\/jats:italic>\n                    gene at Xp22.13. Heterozygous females often present with similar, but less severe features than affected males. We describe a relatively large cohort of eight new patients with NHS, including two patients with microdeletions including\n                    <jats:italic>NHS<\/jats:italic>\n                    who had classical presentations, and provide detailed descriptions of the clinical findings for both affected males and females. The spectrum of clinical features in NHS is variable and can be mild, in particular for females, and the condition can remain undiagnosed. This report contributes to the delineation of the phenotypic and genotypic findings associated with this condition.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64289","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T14:26:02Z","timestamp":1763130362000},"page":"642-652","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nance\u2010Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes"],"prefix":"10.1002","volume":"200","author":[{"given":"Maria K.","family":"Haanp\u00e4\u00e4","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Turku University Hospital  Turku Finland"},{"name":"Department of Medicine Stanford School of Medicine  California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad R.","family":"Haldeman\u2010Englert","sequence":"additional","affiliation":[{"name":"Cone Health  Greensboro North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marja","family":"Hietala","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Turku University Hospital  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melisa S.","family":"Tanverdi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado  Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick P.","family":"Koty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section on Medical Genetics Wake Forest School of Medicine  Winston\u2010Salem North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Brightman","sequence":"additional","affiliation":[{"name":"Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Ophthalmology University of Cincinnati College of Medicine  Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1992-2203","authenticated-orcid":false,"given":"Eniolami","family":"Dosunmu","sequence":"additional","affiliation":[{"name":"Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Ophthalmology University of Cincinnati College of Medicine  Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shailja","family":"Tibrewal","sequence":"additional","affiliation":[{"name":"Shroff's Charity Eye Hospital  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Savleen","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Pediatrics and Dentistry Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Pediatrics and Dentistry Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raj Kumar","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Pediatrics and Dentistry Postgraduate Institute of Medical Education and Research  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra G.","family":"de Alba Campomanes","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of California San Francisco  San Francisco USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Utz","sequence":"additional","affiliation":[{"name":"Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical 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