Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
J. Amiel,B. Laudier,11 Authors,S. Lyonnet
2003 · DOI: 10.1038/ng1130
Nature Genetics · 834 Citations
TLDR
An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported.