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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...

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Bibliografski detalji
Glavni autori: Kwon, Kyoung-Ah, Park, Su-Eun, Byun, Shin-Yun, Kim, Shine-Young, Hwang, Sang-Hyoun
Format: Artigo
Jezik:Inglês
Izdano: The Korean Academy of Medical Sciences 2010
Teme:
Online pristup: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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