Joubert Syndrome 2
Last Posted: May 10, 2023
- 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
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano Riccardo, et al. NPJ genomic medicine 2021 0 (1) 53
- Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade Arezou, et al. Molecular biology reports 2021 0 (6) 5339-5345
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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