Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Romaniello, Romina

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations. [electronic resource] - Journal of child neurology Dec 2013 - 1702-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1708-8283

10.1177/0883073812467849 doi


Ataxia--genetics
Brain Neoplasms--genetics
Calcinosis--genetics
Central Nervous System Cysts--genetics
Child
Eye Proteins--genetics
Genetic Association Studies
Humans
Leukoencephalopathies--genetics
Male
Muscle Spasticity--genetics
Mutation--genetics
Nerve Tissue Proteins--genetics
Retinal Diseases--genetics
Seizures--genetics
Telomere-Binding Proteins--genetics