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
A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
Bekircan-Kurt CE et al.
The Turkish Journal of Pediatrics, 2016
Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
Gohda Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Hypoglycemia in Kabuki syndrome.
Subbarayan A et al.
American Journal of Medical Genetics. Part A, 2014
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