Stay informed about the latest Bardet-Biedl Syndrome research. Save papers to your personal knowledge base and ask questions about your collected research.
Automatically updated with new BBS papers from PubMed
Save relevant papers and add your own notes
Ask questions and get answers from your saved research
We report a case of Bardet-Biedl syndrome (BBS) complicated by bilateral Coats-like exudative vasculopathy with exudative retinal detachment and neovascular glaucoma (NVG). A 10-year-old boy noticed decreased visual acuity and was referred to our clinic. He had a history of retinitis pigmentosa, re...
No abstract available for this paper.
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder with multi-systemic symptoms, including polydactyly, obesity, renal anomalies, retinal dystrophy, and cognitive impairment. Our study reported a previously unreported BBS5 homozygous variant in a Chinese patient with BBS fro...
IFT172 is a core component of intraflagellar transport complex B (IFT-B), and pathogenic IFT172 variants disrupt ciliary transport, receptor localization, and tissue-specific signaling. This review summarizes evidence linking IFT172 dysfunction to neurological, retinal, skeletal, renal, and syndromi...
The human induced pluripotent stem cell (iPSC) line, iPSC-BBS5stbg1, derived from a patient with a Bardet-Biedl Syndrome (BBS) phenotype and carrying a BBS5 homozygous pathogenic variant: c.123delA, p.Gly42Glufs*11 is described. The reprogramming of the patient's dermal fibroblasts was achieved usin...
Bardet-Biedl syndrome is a pleiotropic ciliopathy marked by retinal degeneration, obesity, polydactyly, renal and reproductive anomalies, and cognitive impairment. BBS1, the most frequently mutated gene in Bardet-Biedl syndrome, encodes a key component of the BBSome complex, which is essential for c...
Clinical decision support systems (CDSS) have emerged as valuable tools for enhancing healthcare for rare diseases. Nonetheless, most tools focus on diagnosis, while few support patient monitoring. We aim to report the methods to develop an evidence-based CDSS for monitoring rare diseases, using Bar...
This case study describes what happened to a teenage girl with Bardet-Biedl syndrome who developed a severe skin reaction while being treated in the hospital. The girl already had several serious complications from BBS, including kidney failure, seizures, developmental delays, and heart problems. Sh...
This research paper is a review that examines how a protein complex called the BBSome (made up of 8 different BBS proteins) affects metabolism and weight control in the brain. The BBSome was originally known for helping tiny cellular structures called cilia work properly, but scientists have discove...
This research describes the first documented case where a child has been genetically confirmed to have both Bardet-Biedl Syndrome (BBS) and autism spectrum disorder (ASD) at the same time. The patient is a 4-year-old boy who shows symptoms of both conditions - he has the physical features typical of...
Background/Objectives: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy caused by variants in genes encoding components of the BBSome complex. Interpretation of rare variants in the BBS7 gene remains challenging, particularly for variants of uncertain significance. This study aim...
**What they did:** A team of international medical experts and patient organizations worked together to create new, improved guidelines for diagnosing Bardet-Biedl Syndrome (BBS). They updated the checklist that doctors use to determine if someone has BBS, making it more accurate and easier to use....