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.
Matera
I
I
Bachetti
T
T
Puppo
F
F
Di Duca
M
M
Morandi
F
F
Casiraghi
G M
GM
Cilio
M R
MR
Hennekam
R
R
Hofstra
R
R
Schöber
J G
JG
Ravazzolo
R
R
Ottonello
G
G
Ceccherini
I
I
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*
D018398:Homeodomain Proteins; C109220:NBPhox protein; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine