Congenital Central Hypoventilation Syndrome
What's New
Last Posted: Feb 06, 2024
- Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Marlène Malbos, et al. Clinical genetics 2024 0 - Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype.
Susan M Slattery, et al. Pediatric research 2024 0 - [Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].
Shengfang Qin, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 0 (1) 32-37 - Effect of Facemask in Congenital Central Hypoventilation Syndrome.
Benjamin Dudoignon, et al. Respiration; international review of thoracic diseases 2023 0 22-25 - Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Yaoyao Wang, et al. Molecular genetics & genomic medicine 2023 0 e2267 - Central CO chemosensitivity and CO controller gain independently contribute to daytime PCO in young subjects with congenital central hypoventilation syndrome.
Plamen Bokov, et al. Journal of applied physiology (Bethesda, Md. : 1985) 2023 0 - Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.
Mary Ellen Fain, et al. Clinical medicine insights. Pediatrics 2023 0 11795565231169556 - 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
More
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
- Content source: