Congenital Central Hypoventilation Syndrome
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
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
- Content source: