Associated Papers
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc5.xlsx › Sheet1
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report.
Aristizábal E et al.
The Application of Clinical Genetics, 2021
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H et al.
American Journal of Medical Genetics. Part A, 2020
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