Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel, Béatrice Laudier(Hôpital Necker-Enfants Malades), Tania Attié‐Bitach(Inserm), Ha Trang(Inserm), Loïc de Pontual(Hôpital Necker-Enfants Malades), Blanca Gener(Hospital de Cruces), Delphine Trochet(Hôpital Necker-Enfants Malades), Heather Etchevers(Hôpital Necker-Enfants Malades), Pierre F. Ray(Hôpital Necker-Enfants Malades), Michel Simonneau(Inserm), Michel Vekemans(Inserm), Arnold Münnich(Inserm), Claude Gaultier(Hôpital Robert-Debré), Stanislas Lyonnet(Hôpital Necker-Enfants Malades)
Nature Genetics
March 17, 2003
Cited by 854Open Access
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