{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:54Z","timestamp":1753861794466,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Nance\u2013Horan Syndrome (NHS) is an ultra\u2010rare syndrome characterized by facial dysmorphism, teeth, and eye abnormalities. Pathogenic variants in <jats:italic>NHS<\/jats:italic> are responsible for NHS. Herein, we report four Turkish patients from two unrelated families having dysmorphic facial features, congenital bilateral cataracts, and dental anomalies. Molecular studies revealed two novel hemizygous (c.136_137del; p.Leu46Glyfs*136 and c.2690del; p.Thr897Serfs*19) variants in the <jats:italic>NHS<\/jats:italic> inherited from their mothers. In family 1, the mother and her children also carried a heterozygous known c.645G&gt;A (p.Trp215*) <jats:italic>AIPL1<\/jats:italic> variant, which explains the cone\u2010rod dystrophy (CRD). This is the first report documenting the coexistence of NHS and <jats:italic>AIPL1<\/jats:italic>\u2010related CRD.<\/jats:p>","DOI":"10.1002\/ajmg.a.64008","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T12:33:41Z","timestamp":1738672421000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of Novel Variants in the <scp><i>NHS<\/i><\/scp> in Four Turkish Patients With Nance\u2013Horan Syndrome"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7327-3849","authenticated-orcid":false,"given":"Ceren","family":"Alavanda","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Marmara University  Istanbul T\u00fcrkiye"},{"name":"Department of Medical Genetics Van Research and Training Hospital  Van T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5552-8134","authenticated-orcid":false,"given":"Esra","family":"Arslan Ate\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8374-0359","authenticated-orcid":false,"given":"\u015eenol","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Marmara University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0833-9968","authenticated-orcid":false,"given":"Hamza","family":"Polat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Marmara University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Onur","family":"Hano\u011flu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Marmara University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Arman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Marmara University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0317-5677","authenticated-orcid":false,"given":"Bilgen Bilge","family":"Ge\u00e7kinli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Marmara University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/379381"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201671"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2019.1644687"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12903\u2010023\u201003029\u20104"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440\u20101754.1974.tb01098.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2100"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2011.634881"},{"key":"e_1_2_9_9_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Kumaran N.","year":"2018"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010021\u201000566\u2010x"},{"issue":"4","key":"e_1_2_9_11_1","first-page":"285","article-title":"Congenital X\u2010Linked Cataract, Dental Anomalies and Brachymetacarpalia","volume":"10","author":"Nance W. 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