טוען...
Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation
We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma...
שמור ב:
| הוצא לאור ב: | J Clin Sleep Med |
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| Main Authors: | , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Academy of Sleep Medicine
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6086954/ https://ncbi.nlm.nih.gov/pubmed/30092902 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.7290 |
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