Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: congenital central hypoventilation syndrome. American Thoracic Society. https://www.thoracic.org/statements/resources/pldd/congenital-central-hypoventilation-syndrome.pdf. Published September 2009. Accessed March 15, 2023.
Spielmann M, Hernandez-Miranda LR, Ceccherini I, et al. Mutations in myo1h cause a recessive form of central hypoventilation with autonomic dysfunction. Journal of Medical Genetics. https://jmg.bmj.com/content/54/11/754. Published November 1, 2017. Accessed March 15, 2023.
Hernandez-Miranda LR, Ibrahim DM, Ruffault P-L, et al. Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. PNAS. https://www.pnas.org/doi/10.1073/pnas.1813520115. Published November 28, 2018. Accessed March 15, 2023.
Trang H, Samuels M, Ceccherini I, et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020;15(1):252. Published September 21, 2020. doi:10.1186/s13023-020-01460-2. Accessed March 15, 2023.