A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2005-11, Vol.139A (1), p.50-51
Main Authors: Holzinger, Andreas, Mittal, Rashmi A., Kachel, Walter, Priessmann, Helga, Hammel, Markus, Ihrler, Stephan, Till, Holger, Münch, Hans-Georg
Format: Article
Language:English
Subjects:
Base Sequence
Chromosome Deletion
Ganglia - abnormalities
Hirschsprung Disease - genetics
Homeodomain Proteins - genetics
Humans
Hypoventilation - genetics
Hypoventilation - pathology
Infant
Infant, Newborn
Intestine, Large - abnormalities
Intestine, Large - innervation
Intestine, Small - abnormalities
Intestine, Small - innervation
Male
Molecular Sequence Data
Syndrome
Transcription Factors - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30975