Article

Genetic identification of novel medullary neurons underlying congenital central hypoventilation syndrome

2023-05-30

Abstract excerpt

Congenital Central Hypoventilation Syndrome (CCHS) is a rare, but life-threatening, respiratory disorder that is classically diagnosed in children. This disease is characterized by pronounced alveolar hypoventilation and diminished chemoreflexes, particularly to abnormally high levels of arterial pCO 2 . Mutations in the transcription factors PHOX2B and LBX1 have been identified in CCHS patients, but the dysfun...

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Literature Corpus work: 141e035d-d19e-5127-9507-5a6b6475ea72
DOI: 10.1101/2023.05.29.542652

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