Publication: Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype
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Date
2020
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Humans, Male, Child, Preschool, Phenotype, Genes, Recessive, Consanguinity, Agammaglobulinemia, Chromosome Disorders, Sequence Deletion, Autosomal recessive, Clinical variability, Heavy Chain Disease, IGHM, Immunoglobulin mu-Chains