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Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.

Yi chuan = Hereditas - 20 Oct 2022

Shen Yan-Ting, Ling Yan, Lu Zhi-Qiang, Li Xiao-Mu, Bian Hua, Yan Hong-Mei, Xia Ming-Feng, Chang Xin-Xia, Jiang Jing-Jing, Zhang Jing, Gao Xin

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy, which is caused by mutations mainly in genes encoding BBSome complex and IFT complex. Here, we reported a 21-year-old female with BBS characterized by three primary features including obesity, retinitis pigmentosa sine pigmento and bilateral renal cysts. She also had some secondary features such as diabetes mellitus, nonalcoholic fatty liver...

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PMID: 36384733
DOI: 10.16288/j.yczz.22-182

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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