Associated Papers
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L et al.
Human Mutation, 2014
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