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
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.
Yi H et al.
Molecular Therapy. Nucleic Acids, 2024
38766525 (PubMed )
Supplement: mmc1.pdf
Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.
Lee S et al.
Scientific Reports, 2023
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