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Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs

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Retrotrapezoid nucleus (RTN) neurons in the brainstem regulate the ventilatory response to hypercarbia. It is unclear how PHOX2B-polyalanine repeat mutations (PHOX2B-PARMs) alter the function of PHOX2B and perturb the formation of RTN neurons. Here, we generat... ...