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

I. Matera, T. Bachetti, F. Puppo, M. Di Duca, F. Morandi, G. M. Casiraghi, M. R. Cilio, R. Hennekam, R. Hofstra, J. G. Schöber, R. Ravazzolo, G. Ottonello, I. Ceccherini

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)373-380
Number of pages8
JournalJournal of Medical Genetics
Volume41
Issue number5
Publication statusPublished - May 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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