Article

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

2024-03-04

Abstract excerpt

<title>Abstract</title> <p>Background Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in at least 26 BBS genes. It affects multiple organs including kidney and liver, however, organ involvement differs widely regarding extent and time of first manifestation. Structural renal anomalies are an early feature with a frequency of > 50% and end-stage kidney disease (ESKD)...

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Literature Corpus work: 7d3e821b-e300-5927-9141-aef0098091bf
DOI: 10.21203/rs.3.rs-3989018/v1

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