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weber congenital amaurosis 6
- ... retinal ganglion cells in patients with X-linked congenital stationary night ... Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher ...
- ... Singh A, Koschak A, Striessnig J. Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. J Neurochem. 2006 Mar;96(6):1648-58. doi: 10.1111/j.1471-4159. ...
- Port-Wine Stains (Nemours Foundation)Birthmarks/Specifics ... Birthmarks ... Nemours Foundation ... birthmark, port-wine stain, port wine stain, rash, red birthmark, vascular birthmarks, strawberry birthmark, ...
- ... Ophthalmol. 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. Citation on PubMed Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic ...