The research progress in Marfan syndrome / 法医学杂志
Journal of Forensic Medicine
; (6): 58-60, 2005.
Article
en Zh
| WPRIM
| ID: wpr-983072
Biblioteca responsable:
WPRO
ABSTRACT
Marfan syndrome (MFS) is a potentially fatal connective disorder that is inherited as an autosomal dominant trait with a prevalence of around 2-3 in 10000 live births. It is characterized by defects in the cardiovascular, skeletal and ocular systems. Evidence from genetic indicates that mutations in FBN1, the gene that encodes fibrillin-1 are responsible for MFS. In addition to skeletal, ocular, and cardiovascular feathers, patients with MFS have also involvement of skin, integument, lungs, and muscle tissue, and the condition in sudden death is also very common due to severe abnormalities of cardiovascular system.
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Fenotipo
/
Enfermedades Cardiovasculares
/
Enfermedades Musculoesqueléticas
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Oftalmopatías
/
Genotipo
/
Síndrome de Marfan
/
Proteínas de Microfilamentos
/
Mutación
Límite:
Humans
Idioma:
Zh
Revista:
Journal of Forensic Medicine
Año:
2005
Tipo del documento:
Article