Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island

Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island

This study reports variants in BBS1 and BBS7 in patients with Bardet–Biedl syndrome from the Canadian Maritime provinces. The BBS1 variant NM_024649.5:c.1169T>G was identified as a recurrent variant in Prince Edward Island.

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Bibliographische Detailangaben
Veröffentlicht in:Clinical genetics 2023-12, Vol.104 (6), p.713-715
Hauptverfasser: Alghaith, Fahad A., MacKay, Sara, Wallace, Karin, Locke, Jeff, Robitaille, Johane M., Dyack, Sarah, Arts, Heleen H.
Format: Artikel
Sprache:eng
Schlagworte:
Bardet-Biedl syndrome
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Beschreibung
Zusammenfassung:This study reports variants in BBS1 and BBS7 in patients with Bardet–Biedl syndrome from the Canadian Maritime provinces. The BBS1 variant NM_024649.5:c.1169T>G was identified as a recurrent variant in Prince Edward Island.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14418