Intracranial calcification, retinopathy, and osteopenia: A new syndrome?

Pediatric Neurology

Volumn 26, Issue 4, 2002, Pages 324-328

  Sazgar, Mona ^a   Leonard, Norma J ^a   Renaud, Deborah L ^b   Bhargava, Ravi ^a   Sinclair, D Barry ^a  

^a UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BONE DENSITY; BRAIN CALCIFICATION; CASE REPORT; CLINICAL FEATURE; CRYOTHERAPY; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE COURSE; GLAUCOMA; HUMAN; INTELLIGENCE; LABORATORY TEST; MALE; OSTEOPENIA; PANCYTOPENIA; PRIORITY JOURNAL; RETINOPATHY; SPLENOMEGALY;

EID: 0036234345     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(01)00398-8     Document Type: Article

References (11)

1. Retinal vascular disorders
2. Bilateral retinopathy, aplastic anemia, and central nervous system abnormalities: A new syndrome?
3. Extensive brain calcification in two children with bilateral Coat's disease
4. A familial syndrome with Coat's reaction, retinal angiomas, hair and nail defects and intracranial calcifications
5. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: A role for Norrin in retinal angiogenesis
6. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity
7. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease
8. Mutations in the Norrie disease gene
9. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
10. Mutations in the candidate gene for Norrie disease
11. Bilateral Coat's retinopathy associated with aplastic anemia and mild dyskeratotic signs