Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

Abstract Background Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consanguineous Pakistani family with an...

Full description

Bibliographic Details
Main Authors: Julia Suárez-González, Verónica Seidel, Cristina Andrés-Zayas, Elvira Izquierdo, Ismael Buño
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Medical Genomics
Subjects:
Bardet–Biedl syndrome
BBS9
Novel genomic variant
Splice-site
Pathogenic variants
Online Access:https://doi.org/10.1186/s12920-021-00943-w

Internet

https://doi.org/10.1186/s12920-021-00943-w

Similar Items