A diagnostic conundrum in Bardet–Biedl syndrome: when genetic diagnosis precedes clinical diagnosis

Bardet–Biedl syndrome (BBS) is a rare, autosomal recessive, multisystem non-motile ciliopathy of progressive onset. It is primarily characterised by rod–cone dystrophy, early-onset obesity and related complications, postaxial polydactyly, renal and genitourinary abnormalities, learning disabilities,...

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Hlavní autoři:	Nele Van Roy, Sylvester Heerwegh, Dashty Husein, Joke Ruys, Peter Coremans
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Bioscientifica 2023-11-01
Edice:	Endocrinology, Diabetes & Metabolism Case Reports
On-line přístup:	https://edm.bioscientifica.com/view/journals/edm/2023/4/EDM23-0055.xml
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