Hereditary metabolic bone diseases: a review of pathogenesis, diagnosis and management

N Charoenngam, A Nasr, A Shirvani, MF Holick - Genes, 2022 - mdpi.com
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal
homeostasis and encompass one of the most diverse groups among rare diseases. In this …

[HTML][HTML] Camurati-engelmann disease

SE Wallace, WR Wilcox - 2017 - europepmc.org
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and
the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint …

Editorial for March/April Issue of AACE Clinical Case Reports

S Jasim - AACE Clinical Case Reports, 2022 - aaceclinicalcasereports.com
Welcome to another issue of AACE Clinical Case Reports (ACCR)! ACCR continues to grow
in both manuscript submissions and readership. We are excited to start 2022 with the great …

[HTML][HTML] Camurati-Engelmann Disease Synonym: Progressive Diaphyseal Dysplasia, TGFB1-Related Diaphyseal Dysplasia Camurati-Engelmann

SE Wallace, WR Wilcox - europepmc.org
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and
the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint …