
Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene
Keywords: Leukoencephalopathy; Calcifications and cysts; Microangiopathy; Small vessels disease; Idiopathic portal hypertension; Hepatoportal sclerosis; Bone marrow; Leuco-encéphalopathie; Leucopathie; Calcifications et kystes; Vitro-rétinopathie; Microangiopathi