Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. [electronic resource]
- Revue neurologique May 2015
- 445-9 p. digital
Publication Type: Case Reports; Journal Article
0035-3787
10.1016/j.neurol.2015.01.566 doi
Adolescent Ataxia--genetics Brain Neoplasms--genetics Calcinosis--genetics Central Nervous System Cysts--genetics Fetal Growth Retardation--genetics Gastrointestinal Hemorrhage--etiology Genes, Recessive--genetics Humans Leukoencephalopathies--genetics Magnetic Resonance Imaging Male Muscle Spasticity--genetics Mutation--genetics Retinal Diseases--genetics Seizures--genetics Telomere-Binding Proteins--genetics