Analysis of patient-reported symptoms reveals varied impacts of PHOX2B variants, highlighting critical systems for management and trials.
The individual-reported impact of CCHS varies by both PHOX2B variant severity and the ANS organ system/symptom manifestations. Beyond the traditional clinical focus on cardiorespiratory dysfunction, these results highlight other ANS-related systems that are critical for comprehensive clinical management and future therapeutic trial design.
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Vandemore et al. (2026) studied this question.
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