Associated Papers
Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.
Tian Y et al.
Prenatal Diagnosis, 2024
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: mmc2.xlsx › Sheet1
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.
Li Y et al.
Biology of the Cell, 2010
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity.
Rayapureddi JP et al.
Febs Letters, 2006
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