RT Journal Article SR Electronic T1 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 JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 373 OP 380 DO 10.1136/jmg.2003.015412 VO 41 IS 5 A1 I Matera A1 T Bachetti A1 F Puppo A1 M Di Duca A1 F Morandi A1 G M Casiraghi A1 M R Cilio A1 R Hennekam A1 R Hofstra A1 J G Schöber A1 R Ravazzolo A1 G Ottonello A1 I Ceccherini YR 2004 UL http://jmg.bmj.com/content/41/5/373.abstract AB