Article

Bardet-biedl Syndrome With Ttc8 Mutation in a Kenyan Adolescent: A Case Report From a Rural Public Hospital

2025-09-23

Abstract excerpt

<title>Abstract</title> <p>Bardet-Biedl syndrome (BBS) is a rare inherited disorder of ciliopathy characterized by dysfunction of primary cilia resulting in a myriad of manifestations in various organ systems. These manifestations include progressive retinal dystrophy, central obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Additional manifestations include, but are not limited to,...

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Literature Corpus work: c4c444c2-1914-5afa-9555-c345c26b51a9
DOI: 10.21203/rs.3.rs-7493665/v1

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