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Corneal "Dystrophy," Recessive
- ... The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... Genetic Testing ...
- ... The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do ... Registry: Bietti crystalline corneoretinal dystrophy ...
- Tyrosinemia is a genetic disorder characterized by problems breaking down the amino acid tyrosine, which is a building block of most proteins. If the condition is ...
- ... pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet. 2010 Jul;128(1):51-60. ...
- ... nearsightedness as a feature. These conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...