Associated Papers
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Nicolle R et al.
European Journal of Human Genetics : Ejhg, 2024
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
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