Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders
Chui-Sun Yap, Saumya Shekhar Jamuar, Angeline Lai, Ee‐Shien Tan, Ee‐Shien Tan, Ivy Ng, Teck Wah Ting, Ene‐Choo Tan, Ene‐Choo Tan
Topics & Concepts
Kabuki syndromeBiologyGeneticsMissense mutationPhenotypeGeneDemethylaseDNA sequencingMethyltransferaseHistoneMethylationGenomics and Rare DiseasesEpigenetics and DNA MethylationGenetic Syndromes and Imprinting