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Results 1 - 8 of 8 for Nystagmus "5," "congenital," "X-linked"
  1. ... X. A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital ... L, Hejtmancik JF, Zhao K. Five novel mutations of the FRMD7 gene in Chinese ...
  2. ... mutations in FRMD7. Brain. 2008 May;131(Pt 5):1259-67. doi: ... gene in X-linked congenital motor nystagmus. Mol Vis. 2007 Sep 13;13:1674-9. ...
  3. ... linked CSNB. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10. Citation on PubMed MacDonald IM, Hoang S, Tuupanen S. X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 ...
  4. ... CACNA1F gene have been identified in people with X-linked congenital ... eyes (nystagmus). Many affected individuals also have difficulty seeing in ...
  5. ... cannot pass X-linked traits to their sons. Congenital X-linked retinoschisis ... longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina. 2005 Jul-Aug;25(5):612-8. doi: 10.1097/00006982-200507000-00012. ...
  6. ... which may be autosomal dominant, autosomal recessive, or X-linked. Congenital ocular coloboma Microphthalmia, isolated, with coloboma Ocular coloboma ...
  7. ... gov/books/NBK1321/ Citation on PubMed Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006 Mar;5(1):41-9. Citation on PubMed Camaschella C. ...
  8. ... 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 ...