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Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the case...

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Pubblicato in:Orphanet J Rare Dis
Autori principali: Trang, Ha, Bourgeois, Pauline, Cheliout-Heraut, Fawzia
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7670788/
https://ncbi.nlm.nih.gov/pubmed/33203435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01601-7
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