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Article

Bardet–Biedl syndrome: a case series

28 Apr 2022

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl...

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PMID: 35484558
DOI: 10.1186/s13256-022-03396-6

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