Classical Ehlers-danlos Syndrome
Last Posted: Mar 01, 2023
- A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer Julie, et al. Arteriosclerosis, thrombosis, and vascular biology 2020 0 (11) 2686-2699
- Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.
Junkiert-Czarnecka Anna, et al. Current issues in molecular biology 2022 3 (4) 1472-1478
- Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
Ritelli Marco et al. Molecular genetics & genomic medicine 2020 Jul e1422
- Classical Ehlers-Danlos syndrome
From NCATS Genetic and Rare Diseases Information Center
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
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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