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Article

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Journal of child neurology - 1 Dec 2013

Romaniello Romina, Arrigoni Filippo, Citterio Andrea, Tonelli Alessandra, Sforzini Cinzia, Rizzari Carmelo, Pessina Marco, Triulzi Fabio, Bassi Maria Teresa, Borgatti Renato

Abstract excerpt

Mutations in the conserved telomere maintenance component 1 (CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein (NDP) gene was found mutated in Norrie disease, in Familial Exudative Vitreoretinopathy, and in Coats syndrome. Here we describe a boy affected by Norrie disease who developed typical features of...

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Source

Identifiers

PMID: 23220793
DOI: 10.1177/0883073812467849

Genes

CTC1
NDP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.PMID 23220793Read ↗

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