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APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant

Lourdes Ramirez, Wendy Tamayo, Hanadys Ale

2020Journal of Clinical Immunology23 citationsDOI

Topics & Concepts

GeneticsPrimary immunodeficiencySplice site mutationShort statureLoss functionGenetic testingHaploinsufficiencyHypogammaglobulinemiaBiologyMedicineGenePhenotypePediatricsRNA splicingImmune systemAntibodyRNAImmunodeficiency and Autoimmune DisordersCystic Fibrosis Research AdvancesGenomics and Rare Diseases
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant | Litcius