A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
Ataxia
/ complications
Brain Neoplasms
/ complications
Calcinosis
/ complications
Central Nervous System Cysts
/ complications
Dyskeratosis Congenita
/ complications
Female
Humans
Infant
Leukoencephalopathies
/ complications
Muscle Spasticity
/ complications
Mutation
Prognosis
Retinal Diseases
/ complications
Seizures
/ complications
Telomere-Binding Proteins
/ genetics
CTC1 mutation
coats plus syndrome
dyskeratosis congenita
gene mutation
pediatric retina
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
pubmed:
17
6
2020
medline:
22
6
2021
entrez:
17
6
2020
Statut:
ppublish
Résumé
Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the
Identifiants
pubmed: 32543263
doi: 10.1080/13816810.2020.1772315
doi:
Substances chimiques
Ctc1 protein, human
0
Telomere-Binding Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM