Oculo-auriculo-vertebral Spectrum
What's New
Last Posted: Mar 01, 2023
- Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
Glaeser Andressa Barreto, et al. American journal of medical genetics. Part A 2020 0 (11) 2624-2631 - The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
Estandia-Ortega Bernardette, et al. Life (Basel, Switzerland) 2022 0 (11) - Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida Valentina, et al. Clinical genetics 2021 5 - Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Guida Valentina et al. International journal of molecular sciences 2021 Jan 22(3) - Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
Rengasamy Venugopalan S et al. Orthodontics & craniofacial research 2017 Jun 20 Suppl 150-56 - A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer Marie, et al. European journal of human genetics : EJHG 2017 6 - Oculo-auriculo-vertebral spectrum
From NCATS Genetic and Rare Diseases Information Center
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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
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- Page last reviewed:Feb 1, 2024
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