https://www.selleckchem.com/pr....oducts/pf-06882961.h
We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination, multimodal imaging, and electrophysiology. In addition, we demonstrate the wide phenotypic spectrum of the condition with the affected sister harboring the same
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