title: Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.
abstract: 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.
authors.forename: Rajen U
authors.initials: RU
authors.lastname: Desai
authors.forename: Norman A
authors.initials: NA
authors.lastname: Saffra
authors.forename: Rati P
authors.initials: RP
authors.lastname: Krishna
authors.forename: Steven E
authors.initials: SE
authors.lastname: Rosenberg
mesh_terms: D001766:Blindness / Q000150:complications / Q000151:congenital*; D005260:Female; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007231:Infant, Newborn; D009422:Nervous System Diseases / Q000150:complications*; D012162:Retinal Degeneration; D058456:Retinal Telangiectasis / Q000150:complications*; D013036:Spasms, Infantile / Q000150:complications*; D014424:Turner Syndrome / Q000150:complications*; D014842:von Willebrand Diseases / Q000150:complications*