PHOX2B polyalanine repeat mutation has a profound impact on the transcriptome of neuronal progenitor cells in Haddad syndrome
Tsering Stobdan, Vaishnavi Ventrapragada, Hang Ping Yao, Dan Zhou, Ila Dwivedi, Daniel J. Lesser, Gabriel G. Haddad
This study uses RNA-sequencing to show that PHOX2B polyalanine repeat mutation significantly alters the transcriptome of neuronal progenitor cells in Haddad syndrome.
bioRxiv · Oct 15, 2025 · PreprintNeuroscience