Associated Papers
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.
Graziani L et al.
Genes, 2025
EYA1-related disorders: two clinical cases and a literature review.
Castiglione A et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P et al.
Human Mutation, 2011
Select a paper to view details