Genetics of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 February 2026 | Viewed by 4
Special Issue Editor
2. Department of Oncology, Division of Clinical Genetics, Mount Sinai Medical Center at Florida, Miami, FL, USA
Interests: aortopathy and hereditary connective tissue disorders; adult complex disorders; hereditary cancer syndromes
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The genetic basis of Ehlers–Danlos Syndrome (EDS) and related heritable connective tissue disorders has advanced significantly over the past decade, with the identification of numerous causative genes and pathogenic mechanisms. This Special Issue aims to consolidate current knowledge and recent discoveries in the molecular genetics, genotype–phenotype correlations, and pathophysiological pathways underlying EDS and allied conditions, including Marfan syndrome, Loeys–Dietz syndrome, and other connective tissue disorders. Submissions exploring novel gene variants, mechanisms of extracellular matrix dysfunction, clinical diagnostics, and translational applications such as gene therapy or targeted treatment strategies are highly encouraged. The issue seeks to foster interdisciplinary dialogue and highlight cutting-edge research that informs both clinical practice and future therapeutic innovation.
Dr. Irman Forghani
Guest Editor
Manuscript Submission Information
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Keywords
- Ehlers–Danlos syndrome
- Marfan syndrome
- connective tissue disorders
- extracellular matrix
- Loeys–Dietz syndrome
- genotype–phenotype correlation
- aortopathies
- hypermobility syndromes
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