Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus
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چکیده
منابع مشابه
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA...
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1 Sonoda T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma: clinicopathological analysis and immnunohistochemical study of 57 patients. Cancer 1985; 56: 2280-6. 2 Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. AmJI Ophthalmol 1965; 60: 1011-35. 3 Collum LMT, Mullaney J. Adult limbal xanthogranuloma. BrJ Ophthalmol 1984; 68: 360-3. 4 Lewis JR, Drummond GT, Mielke BW, Hassard DT, Astl...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2017
ISSN: 2045-2322
DOI: 10.1038/srep46285