Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes

Several single-nucleotide mutations in SIX1 underlie branchio-otic/branchio-oto-renal (BOR) syndrome, but the clinical literature has not been able to correlate different variants with specific phenotypes. We previously assessed whether variants in either the cofactor binding domain (V17E, R110W) or...

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Detalles Bibliográficos
Autores principales: Mehdizadeh, Tanya, Majumdar, Himani D., Ahsan, Sarah, Tavares, Andre L. P., Moody, Sally A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293042/
https://www.ncbi.nlm.nih.gov/pubmed/34208995
http://dx.doi.org/10.3390/jdb9030025

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