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J Pediatr Ophthalmol Strabismus. 2011;48 Online:e1-3. doi: 10.3928/01913913-20100318-01. Epub 2010 May 21.

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.

PMID:
20411871
DOI:
10.3928/01913913-20100318-01
[Indexed for MEDLINE]

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