Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient

• मुख्य लेखकों: Ayşenur Alkaya (लेखक), Adalet Elçin Yıldız (लेखक), Esra Bağlan (लेखक), Semanur Özdel (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2024-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is...