Associated Papers
Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
Morohashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
35835773 (PubMed )
Supplement: 41525_2022_311_MOESM2_ESM.xlsx › Table_S4
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
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
Pereiro I et al.
Molecular Vision, 2010
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