PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy
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DOI: 10.1080/13816810.2019.1678178
Abstract: ABSTRACT Background/Objectives: To reveal the underlying genetic defect in a complex family affected with different clinical features of inherited retinal dystrophy, we carried out whole exome sequencing followed by confirmatory molecular tests. Materials and Methods:… read more here.
Keywords: dystrophy; retinal dystrophy; inherited retinal; family affected ... See more keywords