articleNature GeneticsMar 17, 2003BRONZE OA

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

JAJeanne AmielBLBéatrice LaudierTATania Attié‐BitachHTHa TrangLDLoïc de Pontual

Hôpital Necker-Enfants Malades · Inserm · +2 more institutions

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Topics
Keywords
  • Congenital central hypoventilation syndrome
  • Biology
  • Frameshift mutation
  • Homeobox
  • Penetrance
  • Genetics
  • Neural crest
  • Phenocopy
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