Browsing Genetic Medicne by Author "Cassini, Thomas A."
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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 ...