Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Adult-onset Vitelliform Macular Dystrophy[original query] |
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Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. Ophthalmic research 2016 Apr . Liu Jingshu, Zhang Yongjin, Xuan Yi, Liu Wei, Wang M |
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retinal cases & brief reports 2018 10 15 (4): 356-358. Shah Saumya M, Schimmenti Lisa A, Marmorstein Alan D, Bakri Sophie |
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Ophthalmic genetics 2020 9 41 (6): 585-590. Çavdarli Cemal, Çavdarl? Bü?ranur, Alp Mehmet Num |
Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report. European journal of ophthalmology 2023 9 11206721231199850. Nicolò Ribarich, Maria Chiara Rivolta, Riccardo Sacconi, Giuseppe Querqu |
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