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Congenital stationary night "blindness," autosomal dominant 3
- ... NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; ...
- The PDE6B gene provides instructions for making a protein that is one part (the beta subunit) of a protein complex called cGMP-PDE. This complex is found ...
- ... the RHO gene have been found to cause autosomal dominant congenital stationary night blindness, which is characterized by a loss of vision ... daytime vision.The RHO gene mutations responsible for autosomal dominant ... night blindness cause the rhodopsin protein to be constantly turned ...
- ... the GNAT1 gene have been found to cause autosomal dominant congenital stationary night blindness, which is characterized by the inability to see ... active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007 Jul;28(7):741-2. ...
- ... no history of the disorder in their family. Autosomal dominant mental retardation 35 Genetic Testing Registry: Congenital stationary night blindness 1G National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... include nearsightedness as a feature. These conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, ...