Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.
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.
Desai
Rajen U
RU
Saffra
Norman A
NA
Krishna
Rati P
RP
Rosenberg
Steven E
SE
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*