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Article

Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

PloS one - 1 Jan 2014

Xing Dong-Jun, Zhang Hong-Xing, Huang Na, Wu Kun-Chao, Huang Xiu-Feng, Huang Fang, Tong Yi, Pang Chi-Pui, Qu Jia, Jin Zi-Bing

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genomic screening region is both time-consuming and expensive. In order to develop a practical method for the clinic...

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Source

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Identifiers

PMID: 24608809
DOI: 10.1371/journal.pone.0090599
PMCID: PMC3946549

Genes

TES
ARL6
BBS2
MKKS
MKS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.PMID 24608809Read ↗

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Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.Semantic proximity Read ↗

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