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Article

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

Revue neurologique - 1 May 2015

Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C

Abstract excerpt

Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract. Its primary pathogenesis involves small vessel obliterative microangiopathy. Recently, autosomal recessively inherited...

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Source

Identifiers

PMID: 25843205
DOI: 10.1016/j.neurol.2015.01.566

Genes

CTC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25843205-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.PMID 25843205Read ↗

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).Semantic proximity Read ↗

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.Semantic proximity Read ↗

Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.Semantic proximity Read ↗

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