Associated Papers
Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.
Kabadayı G et al.
Bmc Immunology, 2025
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Elbadry MI et al.
Annals of Hematology, 2025
40047910 (PubMed )
Supplement: 277_2025_6257_MOESM1_ESM.pdf
Cernunnos deficiency: Further delineation in 5 Egyptian patients.
El Hawary R et al.
European Journal of Medical Genetics, 2023
Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature.
Jamee M et al.
Molecular Genetics & Genomic Medicine, 2022
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
Sheikh F et al.
Journal of Clinical Immunology, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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