Expanding the phenotypic spectrum of LIG4 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/s41431-024-01558-2Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct

Source: European Journal of Human Genetics - February 13, 2024 Category: Genetics & Stem Cells Authors: Romain Nicolle Lucile Boutaud Laurence Loeuillet Naima Talhi Sarah Grotto Nicolas Bourgon Agnese Feresin Aur élie Coussement Mathilde Barrois Marie-Paule Beaujard Thomas Rambaud F érechté Razavi Tania Atti é-Bitach Source Type: research