Search
Now showing items 1-2 of 2
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 ...
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus
(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 ...