Article
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
Human molecular genetics - 1 Dec 2003
de Pontual Loïc, Népote Virginie, Attié-Bitach Tania, Al Halabiah Hassan, Trang Ha, Elghouzzi Vincent, Levacher Béatrice, Benihoud Karim, Augé Joëlle, Faure Christophe, Laudier Béatrice, Vekemans Michel, Munnich Arnold, Perricaudet Michel, Guillemot François, Gaultier Claude, Lyonnet Stanislas, Simonneau Michel, Amiel Jeanne
Abstract excerpt
Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of the chemical control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system. In particular, the HASH-1-PHOX2A-PHOX2B developmental cascade was proposed as a candidate pathway because it controls the...
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