Congenital contractural arachnodactyly (Beals syndrome)

Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosom...

Descripción completa

Detalles Bibliográficos
Autores principales: Tunçbilek, Ergül, Alanay, Yasemin
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1524931/
https://www.ncbi.nlm.nih.gov/pubmed/16740166
http://dx.doi.org/10.1186/1750-1172-1-20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1524931/
https://www.ncbi.nlm.nih.gov/pubmed/16740166
http://dx.doi.org/10.1186/1750-1172-1-20

Ejemplares similares