Pycnodysostosis- A Rare Diagnosis Not to Miss

• Asıl Yazarlar: Montasir Ahmed A (Yazar), Swapna R Mondal (Yazar), Mustaque Ahmed A. (Yazar), Bipin K Shah (Yazar), Prakash Oli (Yazar), P. Kuwar Chhetri (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: University Library System, University of Pittsburgh, 2022-12-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Key Words: Pycnodysostosis, fracture, autosomal recessive Background Pycnodysostosis derived from the Greek words pycnos-density, dys-defect, ostosis-bone is a rare inherited disorder of the bone with an incidence of 1.7 per million births 1. It is one of the lysosomal storage disorders with a defic...