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Article

[Bardet-Biedl syndrome and Kidney failure: a case report].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 1 Feb 2018

Tattoli Fabio, Falconi Daniela, Bottaro Chiara, Gherzi Maurizio, Marazzi Federico, Marengo Marita, Serra Ilaria, Tamagnone Michela, Formica Marco

Abstract excerpt

Bardet-Biedl Syndrome (BBS) is a rare multi-systemic disease with autosomal recessive transmission. BBS was at first considered to be homogeneous as for its genetics, but subsequent studies have shown an extensive gene variability. Currently, 21 genes (BBS1-21) present on different chromosomes have been mapped: these genes are responsible for BBS phenotypes and they show a great heterogeneity of mutations.The...

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Source

Identifiers

PMID: 29390243

Genes

BBS1
BBS10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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