A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine.
Holzinger
Andreas
A
Mittal
Rashmi A
RA
Kachel
Walter
W
Priessmann
Helga
H
Hammel
Markus
M
Ihrler
Stephan
S
Till
Holger
H
Münch
Hans-Georg
HG
D001483:Base Sequence; D002872:Chromosome Deletion; D005724:Ganglia / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D007420:Intestine, Large / Q000002:abnormalities / Q000294:innervation*; D007421:Intestine, Small / Q000002:abnormalities / Q000294:innervation*; D008297:Male; D008969:Molecular Sequence Data; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors