Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Question Well Put

(2009) Brendan M. Reilly et al.   NEW ENGLAND JOURNAL OF MEDICINE

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

(2008) David Geneviève et al.   NATURE GENETICS

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

(2008) Sandeep Uppal et al.   NATURE GENETICS

A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati–Engelmann disease

(2007) Kousuke Iba et al.   JOURNAL OF BONE AND MINERAL METABOLISM