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
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
Schober S et al.
Bmc Pediatrics, 2019
Unique heterozygous presentation in an infant with DNA ligase IV syndrome.
Brunet BA et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017
Select a paper to view details