Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.

Carly S Golden Saylor Williams Maria de Los Angeles Serrano

Published in: Birth defects research (2023)

We discuss how KMT2D's role in translating external cellular communication can partly explain the clinical heterogeneity observed in KS1 patients. Additionally, we summarize the current molecular diagnostic approaches and clinical trials targeting KS1. This review is a resource for patient advocacy groups, researchers, and physicians to support KS1 diagnosis and therapeutic development.

Keyphrases

clinical trial
end stage renal disease
ejection fraction
chronic kidney disease
case report
primary care
newly diagnosed
single molecule
randomized controlled trial