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Article

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Molecular vision - 1 Jan 2008

Yang Zhenglin, Yang Yang, Zhao Peiquan, Chen Kechun, Chen Bin, Lin Ying, Guo Fuqiang, Chen Yigong, Liu Xiaoqi, Lu Fang, Shi Yi, Zhang Dingding, Liao Shihuang, Xia Qingyou

Abstract excerpt

PURPOSE: To describe the clinical features of and identify a novel mutation in Bardet-Biedl syndrome 7 gene (BBS7) in a Chinese family. METHODS: Nineteen individuals at risk for inheriting Bardet-Biedl syndrome (BBS) in a Chinese family participated in the study. Physical examination was performed and blood was drawn for DNA extraction. Linkage analysis was conducted for all known BBS loci, and mutation screening...

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Identifiers

PMID: 19093007
PMCID: PMC2603185

Genes

BBS7
BBS12

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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A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.PMID 19093007Read ↗

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