A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.

Marija KojicNour E H AbbassiTing-Yu LinAlun JonesEmma L WakelingEmma ClementVasiliki NakouMatthew SingletonDominika DoboszMarios KaliakatsosSebastian GlattBrandon J Wainwright

Published in: Journal of human genetics (2023)

Our study expands the mutational spectrum of ELP1 and its association with different neurodevelopmental conditions and provides a specific target for genetic counselling.

Keyphrases

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