Condition: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
rs199473677
in
CTC1
gene and
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
PMID 22387016
2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
PMID 23869908
2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
PMID 25182133
2015 Clinical utility gene card for: Dyskeratosis congenita - update 2015.
PMID 22267198
2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.