Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.

Marilena ElpidorouSunayna BestJames A PoulterVerity HartillEmma HobsonEamonn SheridanColin A Johnson

Published in: Journal of medical genetics (2020)

This study extends the genotype-phenotype correlation for HERC2 variants to include a distinct lethal neurodevelopmental disorder, highlighting the importance of further characterisation for HERC2-related disorders.

Keyphrases

intensive care unit
emergency department
copy number
gene expression
congenital heart disease