Author

Ila Dwivedi

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Open access Jul 2026

PHOX2B polyalanine repeat mutation alters the transcriptome of neuronal progenitor cells in congenital central hypoventilation syndrome.

RNA-sequencing on the patient derived neuroepithelial stem cells (NESCs) found that the PHOX2B-PARM has a profound impact on the transcriptional profile of the cells, highlighting the use of a suitable model of CCHS/HS and providing a clear path for future experimental validation.

T. Stobdan, Vaishnavi Ventrapragada, Helen W Zhao et al. · Neurobiology of Disease · 0 citations