Associated Papers
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.
Felice KJ et al.
Muscle & Nerve, 2021
Clinical diversity caused by novel IGHMBP2 variants.
Yuan JH et al.
Journal of Human Genetics, 2017
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X et al.
Brain & Development, 2016
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E et al.
American Journal of Human Genetics, 2014
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