Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. [electronic resource]
Producer: 20160203Description: 445-9 p. digitalISSN:- 0035-3787
- 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
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Publication Type: Case Reports; Journal Article
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