Publication | Open Access

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Deafness And/or ScoliosisMendelian DisorderGenetic DisorderCharcot-marie-tooth DiseaseGeneticsPathogenesisGenetic EpidemiologyPathologyDegenerative DiseaseMolecular GeneticsSh3tc2 GeneDisease Gene IdentificationMedicine