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IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells
(Molecular Genetrics & Genome Medicine, 2019-06)
BackgroundFamily screening of a 48-year-old male with recently diagnosed IgG4-related disease (IgG4-RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons.
MethodsWe performed gene sequencing, ...
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
(Molecular Genetics & Genomic Medicine, 2019-06)
BackgroundRare variants (RV) in immunoglobulin mu-binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot-Marie-Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy. Over ...