MORC2 gene de novo mutation leads to Charcot–Marie–Tooth disease type 2Z: A pediatric case report and literature review
2021
Rationale:
Mutations of the MORC2 gene have most commonly been associated with autosomal-dominant Charcot–Marie–Tooth disease type 2Z (CMT 2Z), while the impact of MORC2 mutations in CMT 2Z on neuronal biology and their phenotypic consequences in patients remain to be clarified.
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