Cargando…
First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome
Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2013
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653094/ https://www.ncbi.nlm.nih.gov/pubmed/23678273 http://dx.doi.org/10.3346/jkms.2013.28.5.780 |