{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T18:12:03Z","timestamp":1765995123330},"reference-count":0,"publisher":"MRE Press","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Kabuki syndrome (KS) is an epigenetic machinery multisystem disorder with peculiar facial gestalt and dental-oral anomalies. This report describes the case of a KS patient with congenital hyperinsulinism, growth hormone deficiency and novel heterogenous missense mutations in exon 25 of the KDM6A (c.3715T&gt;G, p.Trp1239Gly) and exon 1 of the ABCC8 (c.94A&gt;G, p.Asn32Asp) genes. She presented with solitary median maxillary central incisor (SMMCI) and mandibular incisor hypodontia, which could be a unique dental manifestation in KS 2.<\/jats:p>","DOI":"10.22514\/jocpd.2023.005","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T06:19:07Z","timestamp":1675750747000},"source":"Crossref","is-referenced-by-count":1,"title":["Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of KDM6A and ABCC8 genes"],"prefix":"10.22514","member":"26027","published-online":{"date-parts":[[2023]]},"container-title":["Journal of Clinical Pediatric Dentistry"],"original-title":[],"language":"en","deposited":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T06:19:08Z","timestamp":1675750748000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jocpd.com\/articles\/10.22514\/jocpd.2023.005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":0,"URL":"https:\/\/doi.org\/10.22514\/jocpd.2023.005","relation":{},"ISSN":["1557-5268","1053-4628"],"issn-type":[{"value":"1557-5268","type":"electronic"},{"value":"1053-4628","type":"print"}],"subject":[],"published":{"date-parts":[[2023]]}}}