Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.
Alías L, López de Heredia M, Luna S, Clivillé N, González-Quereda L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orús C, Lasa A, Venegas MDP.
Alías L, et al. Among authors: de juan j.
Front Genet. 2022 Oct 18;13:998898. doi: 10.3389/fgene.2022.998898. eCollection 2022.
Front Genet. 2022.
PMID: 36330437
Free PMC article.