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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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Autores principales: Kwon, Kyoung-Ah, Park, Su-Eun, Byun, Shin-Yun, Kim, Shine-Young, Hwang, Sang-Hyoun
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908799/
https://www.ncbi.nlm.nih.gov/pubmed/20676341
http://dx.doi.org/10.3346/jkms.2010.25.8.1237