Yuval Shoam

Dissecting PHOX2B-Dependent Mechanisms in CCHS Across Experimental Models.

Congenital central hypoventilation syndrome (CCHS) is a rare autonomic nervous system disorder characterized by defective autonomic control of breathing resulting in life-threatening hypoventilation, particularly during sleep. CCHS is most commonly caused by pathogenic mutations in the transcription factor PHOX2B, broa...