Exploring Phox2b: From Neurodevelopment to Autonomic Disorders and Therapeutic Potential

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ORIGINAL RESEARCH

Published on 22 Sep 2025

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome

Tiziana Bachetti
Simona Bagnasco
Giuseppe Santamaria
Maria Francesca Bedeschi
Francesca Menni
Igor Catalano
Luigina Spaccini
Francesco Cavigioli
Francesco Morandi
Isabella Ceccherini

doi 10.3389/fphys.2025.1616994

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Frontiers in Physiology

Frontiers in Physiology

Autonomic Neuroscience
Respiratory Physiology and Pathophysiology
Developmental Physiology

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Frontiers in Neuroscience
- Autonomic Neuroscience
- Neurodevelopment
- 3.2 impact factor
- 6.6 citescore

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