Associated Papers
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype.
Shao Y et al.
Nephrology (carlton, Vic.), 2022
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Hjortshøj TD et al.
American Journal of Medical Genetics. Part A, 2008
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