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Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in paired-like homeobox 2B (PHOX2B) gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. The aim of this study is to expand current knowledge...

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Detalles Bibliográficos
Autores principales: Mei, Mei, Yang, Lin, Lu, Yulan, Wang, Laishuan, Cheng, Guoqiang, Cao, Yun, Chen, Chao, Qian, Liling, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107878/
https://www.ncbi.nlm.nih.gov/pubmed/34012823
http://dx.doi.org/10.21037/tp-20-303