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
Front Physiol. 2025 Sep 22;16:1616994. doi: 10.3389/fphys.2025.1616994. eCollection 2025. ABSTRACT INTRODUCTION: Heterozygous mutations in the paired-like homeobox 2b (PHOX2B) gene cause congenital central hypoventilation syndrome …