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Article

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?

American journal of medical genetics. Part A - 1 Aug 2013

Isidor Bertrand, Le Meur Guylène, Conti Carole, Caldagues Emmanuelle, Lainey Elodie, Launay Elise, Leclair Marc David, Le Francois Thomas, Pichon Olivier, Boisseau Pierre, Migraine Audrey, Keren Boris, Le Caignec Cédric, Crow Yanick J, David Albert

Abstract excerpt

The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly,...

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Source

Identifiers

PMID: 23824919
DOI: 10.1002/ajmg.a.36021

Genes

CTC1
MYCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?PMID 23824919Read ↗

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