title: 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.
authors.forename: I
authors.initials: I
authors.lastname: Matera
authors.forename: T
authors.initials: T
authors.lastname: Bachetti
authors.forename: F
authors.initials: F
authors.lastname: Puppo
authors.forename: M
authors.initials: M
authors.lastname: Di Duca
authors.forename: F
authors.initials: F
authors.lastname: Morandi
authors.forename: G M
authors.initials: GM
authors.lastname: Casiraghi
authors.forename: M R
authors.initials: MR
authors.lastname: Cilio
authors.forename: R
authors.initials: R
authors.lastname: Hennekam
authors.forename: R
authors.initials: R
authors.lastname: Hofstra
authors.forename: J G
authors.initials: JG
authors.lastname: Schöber
authors.forename: R
authors.initials: R
authors.lastname: Ravazzolo
authors.forename: G
authors.initials: G
authors.lastname: Ottonello
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D042622:DNA Repeat Expansion; D020862:GC Rich Sequence; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D010455:Peptides / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020919:Sleep Disorders, Intrinsic / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine