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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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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 |