Browsing Vanderbilt University Medical Center by Subject "whole exome sequencing"
Now showing items 1-2 of 2
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(Molecular Genetics & Genomic Medicine, 2019-09)Background Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large ...
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(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 ...