Cargando…
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...
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 |
Ejemplares similares
-
Congenital central hypoventilation syndrome with hyperinsulinemia in an infant
por: Ganti, Uma, et al.
Publicado: (2015) -
Congenital Central Hypoventilation Syndrome Presenting with Seizures
por: Binmanee, Abdulaziz, et al.
Publicado: (2020) -
Hippocampal Volume Reduction in Congenital Central Hypoventilation Syndrome
por: Macey, Paul M., et al.
Publicado: (2009) -
Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure
por: Hopkins, Emily, et al.
Publicado: (2016) -
Congenital central hypoventilation syndrome: diagnostic and management challenges
por: Kasi, Ajay S, et al.
Publicado: (2016)