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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

Fig. 2

Localization of a pathogenic variant in KAT6A. a The family pedigree diagram with the electropherogram of Sanger sequencing. Heterozygote de novo mutation of c.1312C>T:p.(Arg438*) in exon 8 of the KAT6A gene was discovered by whole exome sequencing and was confirmed by Sanger sequencing analysis. b KAT6A protein domains and location of the novel variant in this study. c The number of previously reported mutations at each domain

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BMC Medical Genomics

ISSN: 1755-8794

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