Associated Papers
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
37479820 (PubMed )
Supplement: 41598_2023_38909_MOESM1_ESM.pdf
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.
Kari E et al.
Molecular Genetics & Genomic Medicine, 2019
Select a paper to view details