Article

Non-Syndromic Cone-Predominant Retinal Degeneration Associated with Homozygosity for the M390R Mutation in BBS1 Gene

2023-02-07

Abstract excerpt

<h4>Introduction: </h4> Bardet-Biedl syndrome (BBS) is ciliopathy characterized by retinal degeneration, truncal obesity, post-axial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities (e.g., renal cysts). BBS has an autosomal recessive inheritance pattern, and the most common disease-causing gene is BBS1 , with M390R being the...

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Literature Corpus work: 01597412-e907-5b80-9bb0-e88f27d6dd49
DOI: 10.21203/rs.3.rs-2383280/v1

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