Figure 2
From: Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
Mutation spectrum of the KMT2D gene. (A) Schematic view of the KMT2D gene. Each note above represents a variant in this case series (a red note indicates a pathogenic mutation). Each type of mutation is illustrated as a dot with a distinct combination of colour and shape. Each dot below represents a genetic mutation reported in the literature. (B) Schematic view of the number and proportion of missense, nonsense and in-frame indel mutations in the KMT2D gene.