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A Novel c.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome
- Source :
- Journal of Clinical Sleep Medicine. 15:509-513
- Publication Year :
- 2019
- Publisher :
- American Academy of Sleep Medicine (AASM), 2019.
-
Abstract
- Paired-like homeobox (PHOX)2B is considered to be the causative gene of congenital central hypoventilation syndrome (CCHS), a dominant genetic disorder that results in abnormal central respiratory ...
- Subjects :
- Pulmonary and Respiratory Medicine
Genetics
business.industry
Genetic disorder
Causative gene
Congenital central hypoventilation syndrome
medicine.disease
03 medical and health sciences
0302 clinical medicine
Neurology
Mutation (genetic algorithm)
Medicine
Homeobox
Neurology (clinical)
Respiratory system
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15509397 and 15509389
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Sleep Medicine
- Accession number :
- edsair.doi...........7b7fd129d7ca7e64359f113d02e67784