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Article

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

The British journal of ophthalmology - 1 Mar 2009

Hjortshøj T Duelund, Grønskov K, Brøndum-Nielsen K, Rosenberg T

Abstract excerpt

BACKGROUND/AIM: Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found. METHODS: Patients were identified from the files of the Retinitis Pigmentosa Register at the...

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Source

Identifiers

PMID: 18669544
DOI: 10.1136/bjo.2007.131110

Genes

BBS1
BBS10
BBS2
BBS4
MKKS

Variants

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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