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