Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant
ARAS NURCAN
Journal of Pediatric Genetics – ISSN: 2146-4596 ISBN:
De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation
ARAS NURCAN
Journal of Pediatric Genetics – ISSN: 2146-4596 ISBN: