ArticleFrontiers in pediatrics2023
Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026Article
- CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.Kidney international reports · 2025Article
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9 authors at 1 institution in 1 country.
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Abstract
Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and symptoms resulting in great phenotypic variability and what is more important, often difficulties with establishing the timely diagnosis. Case report: We report a case of a one family with three members with BBS caused by a very rare mutation, a compound heterozygosity in Conclusion: This is a case report of a rare clinical syndrome caused by a very rare genetic mutation and it emphasizes the importance of genetic analysis in the timely diagnosis of oligosymptomatic patients with BBS, in order to possibly prevent long-term complications.
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