TY  - GEN
AU  - Ichikawa,Kazushi
AU  - Numasawa,Keita
AU  - Takeshita,Saoko
AU  - Hashiguchi,Akihiro
AU  - Takashima,Hiroshi
TI  - Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C
SN  - 1442-200X
PY  - 2017///0330
KW  - Charcot-Marie-Tooth Disease
KW  - diagnosis
KW  - Child
KW  - DNA
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Testing
KW  - Genotype
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Mutation
KW  - Phenotype
KW  - Proteins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/ped.13152
ER  -