Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of and genes.

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 (c.3715T>G, p.