Associated Papers
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Yap KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB et al.
Nature Genetics, 2010
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