{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:55Z","timestamp":1753861795400,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"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>Chromosome 11q13 microdeletion syndrome, or otodental syndrome, involves dental, auditory, and ocular anomalies linked to deletions in the 11q13.2q13.4 region. We report a 1\u2010year\u2010old girl with a 43\u2009kb deletion of the <jats:italic>FGF3<\/jats:italic> gene on chromosome 11q13.3, exhibiting otodental dysplasia, hearing difficulty, and developmental delay. Her family history includes permanent childhood hearing loss and otodental syndrome. Chromosomal microarray analysis (CMA) and sequencing confirmed a complete heterozygous deletion of <jats:italic>FGF3<\/jats:italic>. This case suggests that <jats:italic>FGF3<\/jats:italic> haploinsufficiency is sufficient to cause the syndrome's key clinical features, emphasizing the need for further research and long\u2010term follow\u2010up.<\/jats:p>","DOI":"10.1002\/ajmg.a.64025","type":"journal-article","created":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T12:10:49Z","timestamp":1740053449000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Single\u2010Gene Deletion of <i>FGF3<\/i> in a Patient With Features of 11q13 Microdeletion Syndrome"],"prefix":"10.1002","volume":"197","author":[{"given":"Hamed","family":"Rahi","sequence":"first","affiliation":[{"name":"Department of Pathology &amp; Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia I.","family":"Dickson","sequence":"additional","affiliation":[{"name":"Department of Genetics Washington University School of Medicine  Saint Louis Missouri USA"},{"name":"Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomi L.","family":"Toler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meagan M.","family":"Corliss","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2499-3567","authenticated-orcid":false,"given":"Yang","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.141"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20101\u20105"},{"issue":"7","key":"e_1_2_8_4_1","first-page":"208","article-title":"An Unusual Case of Hereditary Developmental Anomalies of the Cuspids and Molars","volume":"62","author":"D\u00e9nes J.","year":"1969","journal-title":"Fogorvosi Szemle"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm204"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2168"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2016.59.11.S10"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38075"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u201012\u201021"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1067\/moe.2001.116818"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1097062"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12903\u2010019\u20100860\u2010z"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/510920"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0901\u20105027(98)80309\u20103"},{"issue":"2","key":"e_1_2_8_15_1","first-page":"83","article-title":"The Association of Ocular Defects With the Otodental Syndrome","volume":"14","author":"Winter G. 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