Browsing Genetic Medicne by Author "Hamid, Rizwan"
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Newman, John H.; Shaver, Aaron; Sheehan, Jonathan H.; Mallal, Simon; Bastarache, Lisa; Riebau, Derek; Pilkinton, Mark; Smith, Scott A.; McDonnell, Wyatt J.; Capra, John A.; Meiler, Jens; Cogan, Joy; Hamid, Rizwan; Phillips, John A., III (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, ...
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Cassini, Thomas A.; Duncan, Laura; Rives, Lynette C.; Newman, John H.; Phillips, John A.; Koziura, Mary E.; Brault, Jennifer; Hamid, Rizwan; Cogan, Joy (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 ...