Evidence for Systemic Manifestations in Cerebroretinal Vasculopathy [2]

American Journal of Medical Genetics

Volumn 123 A, Issue 3, 2003, Pages 309-

  Siveke, Jens T ^b   Schmid, Holger ^a,b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; GAMMA GLUTAMYLTRANSFERASE;

ALCOHOL ABUSE; ALKALINE PHOSPHATASE BLOOD LEVEL; BONE NECROSIS; CASE REPORT; CEREBRORETINAL VASCULOPATHY; CHOLESTASIS; CLINICAL FEATURE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; LETTER; LIVER CIRRHOSIS; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; STEROID THERAPY; TOTAL HIP PROSTHESIS; TREATMENT INDICATION; VASCULAR DISEASE;

CEREBRAL ARTERIES; CEREBROVASCULAR DISORDERS; FAMILY HEALTH; GENETIC DISEASES, INBORN; HUMANS; MALE; RETINAL DISEASES; RETINAL VESSELS;

EID: 0344033741     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (3)

1. Grand MG, Kaine J, Fulling K, Atkinson J, Dowton SB, Farber M, Craver J, Rice K. 1988. Cerebroretinal vasculopathy: A new hereditary syndrome. Ophthalmology 95:649-659.
2. Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. 2001. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet 69:447-453.
3. Rachmel A, Zeharia A, Neuman-Levin M, Weitz R, Shamir R, Dinari G. 1989. Alagille syndrome associated with moyamoya disease. Am J Med Genet 33:89-91.