Associated Papers
Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.
Zhang P et al.
Journal of Clinical Immunology, 2021
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P et al.
Frontiers in Immunology, 2018
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Prando C et al.
American Journal of Medical Genetics. Part A, 2010
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