Congenital Central Hypoventilation Syndrome
What's New
Last Posted: Mar 06, 2023
- Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa Umakanth, et al. American journal of medical genetics. Part A 2018 0 (7) 1627-1631 - Novel PHOX2B mutations in congenital central hypoventilation syndrome.
Sasaki Ayako, et al. Pediatrics international : official journal of the Japan Pediatric Society 2019 0 (4) 393-396 - Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method.
Trang Ha, et al. Orphanet journal of rare diseases 2020 0 (1) 322 - Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Mei Mei, et al. Translational pediatrics 2021 0 (4) 733-745 - [Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Xiao T T, et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 0 (4) 280-285 - Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome.
Finch Christina E, et al. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2022 0 - Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda Atsushi, et al. PloS one 2022 0 (4) e0267751 - The genetics of congenital central hypoventilation syndrome: clinical implications.
Bishara John et al. The application of clinical genetics 2018 11135-144 - Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
Shimokaze Tomoyuki, et al. Journal of human genetics 2015 9 (9) 473-7 - Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene.
Lavezzi Anna Maria, et al. Sleep & breathing = Schlaf & Atmung 2013 12 (4) 1275-80
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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