نتایج جستجو برای: oculocutaneous albinism 1 a

تعداد نتایج: 14033402  

Journal: :Investigative Opthalmology & Visual Science 2017

Journal: :The Journal of comparative neurology 2014
Larissa Mcketton Krista R Kelly Keith A Schneider

Our objective was to measure how the misrouting of retinal ganglion cell (RGC) fibers affects the organization of the optic chiasm and lateral geniculate nuclei (LGN) in human albinism. We compared the chiasmal structures and the LGN in both pigmented controls and patients with albinism by using high-resolution structural magnetic resonance imaging (MRI). We studied 12 patients with oculocutane...

Journal: :Clinical genetics 2013
T Kausar M A Bhatti M Ali R S Shaikh Z M Ahmed

To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...

Journal: :Yeungnam University Journal of Medicine 2021

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