TY  - GEN
AU  - Bisserbe,A
AU  - Tertian,G
AU  - Buffet,C
AU  - Turhan,A
AU  - Lambotte,O
AU  - Nasser,G
AU  - Alvin,P
AU  - Tardieu,M
AU  - Riant,F
AU  - Bergametti,F
AU  - Tournier-Lasserve,E
AU  - Denier,C
TI  - Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene
SN  - 0035-3787
PY  - 2016///0203
KW  - Adolescent
KW  - Ataxia
KW  - genetics
KW  - Brain Neoplasms
KW  - Calcinosis
KW  - Central Nervous System Cysts
KW  - Fetal Growth Retardation
KW  - Gastrointestinal Hemorrhage
KW  - etiology
KW  - Genes, Recessive
KW  - Humans
KW  - Leukoencephalopathies
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Muscle Spasticity
KW  - Mutation
KW  - Retinal Diseases
KW  - Seizures
KW  - Telomere-Binding Proteins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.neurol.2015.01.566
ER  -