Joubert Syndrome
What's New
Last Posted: Nov 04, 2021
- Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best Sunayna et al. Journal of medical genetics 2021 - Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu Ruxandra et al. American journal of medical genetics. Part A 2019 Nov - Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Kirk Edwin P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul - Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux Thierry et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug 19(8) 875-882 - Clinical utility gene card for: Joubert syndrome--update 2013.
- Joubert syndrome
From NCATS Genetic and Rare Diseases Information Center - Joubert syndrome 2
From NCATS Genetic and Rare Diseases Information Center - Joubert syndrome with ocular anomalies
From NCATS Genetic and Rare Diseases Information Center - Joubert syndrome with oculorenal anomalies
From NCATS Genetic and Rare Diseases Information Center - Joubert syndrome with renal anomalies
From NCATS Genetic and Rare Diseases Information Center
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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 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 09, 2023
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