Nalaganje...
Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation
PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individuals...
Shranjeno v:
| izdano v: | J Clin Sleep Med |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Academy of Sleep Medicine
2017
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5482585/ https://ncbi.nlm.nih.gov/pubmed/28633714 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.6670 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|