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...

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Detalles Bibliográficos
Autores principales: Ko, Jung Min, Choi, In-Ho, Baek, Goo-Hyun, Kim, Kee-Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Case Report
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

Internet

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

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