Article

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

2020-01-07

Abstract excerpt

<title>Abstract</title> <p>Background Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB. Methods Ophthalmic examinations were performed on the affected patients with ARB. The proband was screened for potential causativ...

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Literature Corpus work: 52600526-f29a-5456-bbe6-610bfd11d320
DOI: 10.21203/rs.2.14948/v6

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