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

• Outros Autores: Colombi, Marina (Editor), Ritelli, Marco (Editor)
• Formato: Recurso Electrónico Capítulo de Livro
• Idioma: inglês
• Publicado em: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
• Assuntos: Research & information: general; Biology, life sciences
• Acesso em linha: 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...