A mutation in <it>CTSK </it>gene in an autosomal recessive pycnodysostosis family of Pakistani origin

• मुख्य लेखकों: Ahmad Wasim (लेखक), Sheikh Sabeen (लेखक), Naeem Muhammad (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2009-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

<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<...