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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. May 2004; 41(5): 373–380.
PMCID: PMC1735781
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, D Di, F Morandi, G Casiraghi, M Cilio, R Hennekam, R Hofstra, J Schober, R Ravazzolo, G Ottonello, and I Ceccherini
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