Open access
Aug 2026
PAX3 deficiency is associated with NLRP3-related inflammatory signaling and hearing loss in a mouse model of Waardenburg syndrome
Findings support a model in which PAX3 deficiency is associated with melanocyte-lineage dysfunction, impaired strial homeostasis, and activation of an NLRP3-related inflammatory pathway.
Mengxue Zhu, Tao Lu, Min Guo et al.
· Orphanet Journal of Rare Dis... · 0 citations