Browsing Artículos (Cirugía) by Subject "Retinitis pigmentosa"
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Article
Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies
(Bentham Open, 2021)Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis ...
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Article
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
(BioMed Central Ltd., 2014-12-14)Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ...