Associated Papers
Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome.
Liu X et al.
Experimental Eye Research, 2025
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
Morohashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
Nikkhah E et al.
Cell Journal, 2018
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
27708425 (PubMed )
Supplement: srep34764-s1.pdf
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.
Pawlik B et al.
Molecular Syndromology, 2010
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