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

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[1] Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee;Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee;Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee;Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee;

关键词: Charcot‐Marie‐Tooth;    IGHMBP;    intron;    splicing;    Undiagnosed Disease Network;    whole exome sequencing;   

DOI  :  10.1002/mgg3.676

来源: publisher

【 授权许可】

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