A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korea...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kwon, Kyoung-Ah, Park, Su-Eun, Byun, Shin-Yun, Kim, Shine-Young, Hwang, Sang-Hyoun
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Academy of Medical Sciences 2010
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2908799/
https://ncbi.nlm.nih.gov/pubmed/20676341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.8.1237
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