Litcius/Paper detail

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

2020Gene22 citationsDOI

Topics & Concepts

Kabuki syndromeBiologyGeneticsMissense mutationPhenotypeGeneDemethylaseDNA sequencingMethyltransferaseHistoneMethylationGenomics and Rare DiseasesEpigenetics and DNA MethylationGenetic Syndromes and Imprinting