Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

Autor: Desai RU, Saffra NA, Krishna RP, Rosenberg SE
Jazyk: angličtina
Zdroj: Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2011; Vol. 48 Online, pp. e1-3. Date of Electronic Publication: 2010 May 21.
DOI: 10.3928/01913913-20100318-01
Abstrakt: The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease.
(Copyright 2010, SLACK Incorporated.)
Databáze: MEDLINE