Bisserbe, A

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