Associated Papers
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE et al.
Human Mutation, 2014
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Stewart DR et al.
Plos One, 2014
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