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. 2004 May;41(5):373–380. doi: 10.1136/jmg.2003.015412

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, I Ceccherini
PMCID: PMC1735781  PMID: 15121777

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