Associated Papers
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
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC et al.
American Journal of Medical Genetics. Part A, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB et al.
Nature Genetics, 2010
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