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Congenital Central Hypoventilation Syndrome in Israel—Novel Findings from a New National Center

Background. Congenital central hypoventilation syndrome (CCHS) is a rare autosomal-dominant disorder of the autonomic nervous system that results from mutations in the PHOX2B gene. A national CCHS center was founded in Israel in 2018. Unique new findings were observed. Methods. All 27 CCHS patients...

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Detalles Bibliográficos
Autores principales: Sivan, Yakov, Bezalel, Yael, Adato, Avital, Levy, Navit, Efrati, Ori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299612/
https://www.ncbi.nlm.nih.gov/pubmed/37373665
http://dx.doi.org/10.3390/jcm12123971