Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
Gasmelseed NMA et al.
Human Mutation, 2004
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