Ichikawa, Kazushi

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C. [electronic resource] - Pediatrics international : official journal of the Japan Pediatric Society Nov 2016 - 1252-1254 p. digital

Publication Type: Case Reports; Journal Article

1442-200X

10.1111/ped.13152 doi


Charcot-Marie-Tooth Disease--diagnosis
Child
DNA--genetics
DNA Mutational Analysis
Female
Genetic Testing
Genotype
Humans
Intracellular Signaling Peptides and Proteins
Mutation
Phenotype
Proteins--genetics