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    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>G, p.Trp1239Gly) and exon 1 of the ABCC8 (c.94A>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. ©2023 The Author(s). Published by MRE Press.


    Farouk B Rihani, May M Altayeh, Rand Z Al-Kilani, Rawan A Alrejjal. Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of KDM6A and ABCC8 genes. The Journal of clinical pediatric dentistry. 2023 Mar;47(2):108-116

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    PMID: 36890748

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