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Article

Bardet Biedl syndrome in South Africa: A single founder mutation.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 25 May 2016

Fieggen K, Milligan C, Henderson B, Esterhuizen A I

Abstract excerpt

BACKGROUND: Bardet Biedl syndrome (BBS) is a multisystem disorder characterised by obesity, polydactyly, intellectual disability and loss of vision due to a progressive retinopathy. Although typically a highly heterogeneous autosomal recessive disease, homozygosity for single mutation in BBS 10 has been identified in a significant number of affected individuals tested in South Africa (SA). Objectives. To...

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Identifiers

PMID: 27245532
DOI: 10.7196/SAMJ.2016.v106i6.11000

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

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