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

• Asıl Yazarlar: Ahmad Wasim (Yazar), Sheikh Sabeen (Yazar), Naeem Muhammad (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2009-08-01T00:00:00Z.
• Konular: article
• Online Erişim: 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<...