[Ataxia Telangiectasia].
Journal
Brain and nerve = Shinkei kenkyu no shinpo
ISSN: 1881-6096
Titre abrégé: Brain Nerve
Pays: Japan
ID NLM: 101299709
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
entrez:
17
4
2019
pubmed:
17
4
2019
medline:
28
5
2019
Statut:
ppublish
Résumé
Ocular telangiectasias are pathognomonic of ataxia telangiectasia (AT), and they usually appear after 6 years of age. Skin and visceral telangiectasias may appear with advancing age. They may represent a progeric change. When present, ocular telangiectasias facilitate the clinical diagnosis of AT, but they are minimally present or absent in milder variants.
Identifiants
pubmed: 30988225
pii: 1416201280
doi: 10.11477/mf.1416201280
doi:
Types de publication
Journal Article
Langues
jpn
Sous-ensembles de citation
IM