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

• Үндсэн зохиолчид: Anka Sharma (Зохиогч), Anirudh Upmanyu (Зохиогч), Amit R. Parate (Зохиогч), Vikrant O. Kasat (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Elsevier, 2021-10-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...