Expanding the phenotypic spectrum of <i>LIG4</i> pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct

European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01558-2

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct