Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders

• अन्य लेखक: Colombi, Marina (संपादक), Ritelli, Marco (संपादक)
• स्वरूप: इलेक्ट्रोनिक पुस्तक अध्याय
• भाषा: अंग्रेज़ी
• प्रकाशित: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
• विषय: Research & information: general; Biology, life sciences
• ऑनलाइन पहुंच: DOAB: download the publication; DOAB: description of the publication

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved i...