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<...

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Bibliographic Details
Main Authors: Ahmad Wasim, Sheikh Sabeen, Naeem Muhammad
Format: Article
Language:English
Published: BMC 2009-08-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/10/76