HIGHLIGHTS
- who: Mirjana Bjelou0161 and colleagues from the University Eye Department, Reference Center of Ministry of Health of Republic of for have published the article: The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy, in the Journal: (JOURNAL) of 23/Nov/2022
- what: The authors report a case of a 66-year-old male who demonstrated a unique phenotype manifesting less severe functional vision deterioration in childhood and adolescence and extensive nummular pigment clusters. underlying causes of differences in typical bone spicule and atypical nummular pigment clumping . . .
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