A mutation in <it>CTSK </it>gene in an autosomal recessive pycnodysostosis family of Pakistani origin
<p>Abstract</p> <p>Background</p> <p>Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (<it>CTSK<...
Main Authors: | , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2009-08-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/10/76 |