ASCL1
MIM.100790 12q22-q23
Pathology
germline mutations in
- congenital central hypoventilation syndrome (Ondine syndrome or Ondine’s curse) (MIM.209880)
- Haddad syndrome (MIM.209880)
References
de Pontual, L.; Nepote, V.; Attie-Bitach, T.; Al Halabiah, H.; Trang, H.; Elghouzzi, V.; Levacher, B.; Benihoud, K.; Auge, J.; Faure, C.; Laudier, B.; Vekemans, M.; Munnich, A.; Perricaudet, M.; Guillemot, F.; Gaultier, C.; Lyonnet, S.; Simonneau, M.; Amiel, J. : Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine’s curse). Hum. Molec. Genet. 12: 3173-3180, 2003. PubMed ID : #14532329#