TY  - GEN
AU  - Kameli,Reyhaneh
AU  - Ashrafi,Mahmoud Reza
AU  - Ehya,Farveh
AU  - Alizadeh,Houman
AU  - Hosseinpour,Sareh
AU  - Garshasbi,Masoud
AU  - Tavasoli,Ali Reza
TI  - Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum
SN  - 1878-0849
PY  - 2020///0930
KW  - Adult
KW  - Alopecia
KW  - complications
KW  - Carrier Proteins
KW  - genetics
KW  - Child, Preschool
KW  - Connective Tissue Diseases
KW  - Cutis Laxa
KW  - Face
KW  - diagnostic imaging
KW  - Female
KW  - Frameshift Mutation
KW  - Genetic Predisposition to Disease
KW  - Guanine Nucleotide Exchange Factors
KW  - Homozygote
KW  - Humans
KW  - Leukoencephalopathies
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Megalencephaly
KW  - Pedigree
KW  - Scoliosis
KW  - White Matter
KW  - abnormalities
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2019.02.002
ER  -