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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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Page last reviewed:Feb 1, 2024
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