Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report

• Main Authors: Anka Sharma (Author), Anirudh Upmanyu (Author), Amit R. Parate (Author), Vikrant O. Kasat (Author)
• Format: Knjiga
• Izdano: Elsevier, 2021-10-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Pycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affec...