PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

Open Access
Authors
  • I Matera
  • T Bachetti
  • F Puppo
  • M Duca
  • F Morandi
  • G.M. Casiraghi
  • M.R. Cilio
  • R.C.M. Hennekam
  • R Hofstra
  • J.G. Schöber
  • R. Ravazzolo
  • G Ottonello
  • I Ceccherini
Publication date 2004
Journal Journal of Medical Genetics
Volume | Issue number 41 | 5
Pages (from-to) 373-380
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
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