Clinical variability of BBS1 across siblings
Vanna Giang, Sarah R Weber, Jeffrey M Sundstrom · 2024
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Description
Vanna Giang, Sarah Weber, and Jeffrey Sundstrom describe two siblings with the same gene variant whose disease looks strikingly different, in a 2024 paper. The condition is Bardet-Biedl syndrome, a rare inherited disorder of cilia. It touches many organs at once and affects fewer than three thousand people in the United States. Because its signs vary so much, early diagnosis is hard. Both siblings carry a variant in the gene BBS1, yet their clinical pictures diverge. The authors detail each presentation to show the syndrome's range within one family.
Catalog record
| CREATOR | Vanna Giang, Sarah R Weber, Jeffrey M Sundstrom |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 17 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |