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9
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9
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Nystagmus "1," "congenital," "X-linked"
- ... X-linked idiopathic infantile nystagmus Genetic Testing Registry: Nystagmus 1, congenital, X-linked Nystagmus 1, congenital, X- linked National Organization for ...
- ... newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1. Erratum In: Nat Genet. 2011 Jul;43(7): ...
- ... disc atrophy alters the structure of the alpha-1 subunit, which probably leads to the production of nonfunctional CaV1.4 channels. This mutation has also been identified in at least one Japanese family with X-linked congenital stationary night blindness. It is unclear why this ...
- ... cannot pass X-linked traits to their sons. Congenital X-linked retinoschisis Degenerative retinoschisis Juvenile ... PubMed Apushkin MA, Fishman ...
- ... NYX gene have been identified in people with X-linked congenital stationary night ... movements of the eyes (nystagmus), and eyes that do not look in the ...
- ... PubMed ... Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006 Mar;5( ...
- Nystagmus (American Association for Pediatric Ophthalmology and Strabismus)Eye Movement Disorders/Start Here ... Eye Movement Disorders ... GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, DICTIONARY ... Shows a single glossary entry ... American ...
- ... which may be autosomal dominant, autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma ...
- ... X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Occasionally, Leigh ... Genetic Testing Registry: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Genetic ...