title: A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine.
authors.forename: Andreas
authors.initials: A
authors.lastname: Holzinger
authors.forename: Rashmi A
authors.initials: RA
authors.lastname: Mittal
authors.forename: Walter
authors.initials: W
authors.lastname: Kachel
authors.forename: Helga
authors.initials: H
authors.lastname: Priessmann
authors.forename: Markus
authors.initials: M
authors.lastname: Hammel
authors.forename: Stephan
authors.initials: S
authors.lastname: Ihrler
authors.forename: Holger
authors.initials: H
authors.lastname: Till
authors.forename: Hans-Georg
authors.initials: HG
authors.lastname: Münch
mesh_terms: 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*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors