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
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Staines Boone AT et al.
Frontiers in Pediatrics, 2018
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE et al.
Human Mutation, 2014
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