TY  - GEN
AU  - Häusler,Martin G
AU  - Begemann,Matthias
AU  - Lidov,Hart G
AU  - Kurth,Ingo
AU  - Darras,Basil T
AU  - Elbracht,Miriam
TI  - A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability
SN  - 1878-0849
PY  - 2020///1231
KW  - Axons
KW  - pathology
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Hereditary Sensory and Motor Neuropathy
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Phenotype
KW  - Protein Isoforms
KW  - Spectrin
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2019.103826
ER  -