Biblio
Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation. Stem Cell Res. 2019;40:101524.
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. Medicine (Baltimore). 2020;99(19):e19763.