Results 111 to 120 of about 7,886 (197)
Ocular Phenotypes and Novel <i>SLC45A2</i> Variants in Patients with Oculocutaneous Albinism Type 4. [PDF]
Genes (Basel)Chen C, Wang B, Zheng Y, Liu J, Yu X.
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Oculo-visual disorders in albinism
, 2015 Oculo-visual disorders in Albinism Safal Khanal OD, Amrit Pokharel BOptom, Himal Kandel Msc.PHEC Background and aim: Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities ...
Kandel, H, Pokharel, A, Khanal, S
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Oculocutaneous Albinism: An Overview
Journal of the Foundations of OphthalmologyAlbinism encompasses a group of heterogenous genetic conditions affecting the melanin synthesis pathway leading to a reduction or absence in melanin production. In ophthalmology, albinism can be broadly categorised into two groups: oculocutaneous albinism (OCA) and ocular albinism (OA).
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Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]
BMJ Case RepKenina V +4 more
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Early Molecular Testing for Presumptive Genetic Eye Diseases. [PDF]
Genes (Basel)Ibarra-Ramírez M +5 more
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Spitz nevus in a patient with oculocutaneous albinism: dermoscopic and histopathologic correlation. [PDF]
An Bras DermatolMaya JAT +3 more
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Mild Oculocutaneous Albinism Type 1B With Subtle Cutaneous Findings: A Dermatology-Oriented Case Report. [PDF]
CureusMontané C +3 more
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The relationship between foveal anatomy and retinal function in oculocutaneous albinism. [PDF]
Doc OphthalmolBalakrishnan U +5 more
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Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report. [PDF]
Turk J Anaesthesiol ReanimAkbulut A +3 more
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