Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations. [electronic resource]
Producer: 20140630Description: 1702-8 p. digitalISSN:- 1708-8283
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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