Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

Genetic segregation analysis of autonomi

Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome

✍ Marazita, Mary L. ;Maher, Brion S. ;Cooper, Margaret E. ;Silvestri, Jean M. ;Huf 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 2 views

Idiopathic congenital central hypoventilation syndrome (CCHS) is a very rare syndrome with major respiratory complications. Hypothesizing that CCHS is the most severe manifestation of general autonomic nervous system dysfunction (ANSD), we applied a case-control family study design to investigate th