Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S, Focșa IO, Budișteanu M, Stoica C, Nedelea F, Bohîlțea L, Caba L, Butnariu L, Pânzaru M, Rusu C, Jurcă C, Chirita-Emandi A, Bănescu C, Abbas W, Sadeghpour A, Baig SM, Bălgrădean M, Davis EE.
Khan S, et al. Among authors: balgradean m.
Am J Med Genet A. 2023 Sep;191(9):2376-2391. doi: 10.1002/ajmg.a.63322. Epub 2023 Jun 9.
Am J Med Genet A. 2023.
PMID: 37293956
Free PMC article.