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Results 1 - 4 of 4 for weber congenital amaurosis 8
  1. X-linked congenital stationary night blindness 
    ... expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):822-8. doi: 10.1007/s00417-002-0562-z. Epub ...
    https://medlineplus.gov/...ked-congenital-stationary-night-blindness - Genetics
  2. CACNA1F gene 
    ... G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3. ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  3. Port-Wine Stains (Nemours Foundation)  
    Birthmarks/Specifics ... Birthmarks ... Nemours Foundation ... birthmark, port-wine stain, port wine stain, rash, red birthmark, vascular birthmarks, strawberry birthmark, ...
    https://kidshealth.org/en/parents/port-wine-stains.html - External Health Links
  4. X-linked juvenile retinoschisis 
    ... retinoschisis. Retina. 2005 Jul-Aug;25(5):612-8. doi: ... Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic ...
    https://medlineplus.gov/.../x-linked-juvenile-retinoschisis - Genetics