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Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome

12 Nov 2024

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It affects multiple organs, including the kidney and liver, with varying degrees regarding extent and time of first manifestation. Structural renal anomalies are an early feature and end-stage kidney disease (ESKD) cumulates to 25% in adulthood. Early-onset hyperphagia-associated obesity is...

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PMID: 39533427
DOI: 10.1186/s13023-024-03400-w

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