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Article

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Mar 2017

Forsythe Elizabeth, Sparks Kathryn, Best Sunayna, Borrows Sarah, Hoskins Bethan, Sabir Ataf, Barrett Timothy, Williams Denise, Mohammed Shehla, Goldsmith David, Milford David V, Bockenhauer Detlef, Foggensteiner Lukas, Beales Philip L

Abstract excerpt

Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1-19) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27659767
DOI: 10.1681/ASN.2015091029
PMCID: PMC5328148

Genes

BBS1
BBS10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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