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Article

BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Journal of medical genetics - 1 Dec 2010

Putoux Audrey, Mougou-Zerelli Soumaya, Thomas Sophie, Elkhartoufi Nadia, Audollent Sophie, Le Merrer Martine, Lachmeijer Augusta, Sigaudy Sabine, Buenerd Annie, Fernandez Carla, Delezoide Anne-Lise, Gubler Marie-Claire, Salomon Rémi, Saad Ali, Cordier Marie-Pierre, Vekemans Michel, Bouvier Raymonde, Attie-Bitach Tania

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic disorder characterised by progressive retinal dystrophy, obesity, hypogenitalism, learning difficulties, renal abnormalities and postaxial polydactyly, with only the last two antenatally observable. BBS is inherited as an autosomal recessive disorder, and 14 genes have been identified to date (BBS1-BBS14). In addition, a complex...

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Source

Identifiers

PMID: 20805367
DOI: 10.1136/jmg.2010.079392

Genes

BBS10
BBS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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