Joubert Syndrome 2
Last Posted: Nov 10, 2023
- Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Joshua W Owens, et al. Annals of human genetics 2023 0
- Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
Mallory L Downie, et al. Kidney international reports 2023 0 (8) 1562-1574
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Simone Schröder, et al. Orphanet journal of rare diseases 2023 0 (1) 101
- Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero Francisco, et al. Clinical genetics 2023 0 (4) 448-452
- Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri Valentina, et al. Journal of medical genetics 2023 0
- Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin Anna, et al. Journal of pediatric gastroenterology and nutrition 2017 0 (3) 428-435
- Missense variants in TMEM67 in a patient with Joubert syndrome.
Huynh Julie M, et al. Clinical case reports 2018 0 (11) 2189-2192
- Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang Xiaoshan, et al. Journal of medical genetics 2020 0 (2) 147-154
- Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi Akella, et al. Pediatric neurology 2020 0 43-49
- Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl Dongheon, et al. Molecular vision 2020 0 26-35
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 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:Oct 1, 2023
- Page last updated:Dec 02, 2023
- Content source: