- First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome
-
Ko JM, Choi IH, Baek GH, Kim KW
- KMID: 1777569
- J Korean Med Sci.
- 2013 May;28(5):780-783.
- doi: 10.3346/jkms.2013.28.5.780
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... -
- CITED
-
- Close
- SHARE
-
- Close
