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M. Ishqair

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Open access Oct 2026

Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report

SLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The clinical presentation is highly heterogeneous, often leading to delayed diag...

M. Ishqair, Abbas K. H. Masalma, M. Saleh et al. · 0 citations

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