Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:Q86TM3 (
cage
)
29,987
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble
Van Buchem disease
(hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria, mandible, shoulder and pelvic girdles, and thoracic
cage
. Unlike
Van Buchem disease
, no periosteal excresences are observed, alkaline phosphatase is normal, no basal foramina encroachment of the skull is present, and the genetic pattern is dominant inheritance. These cases possibly represent a separate disorder rather than a variant of
Van Buchem disease
.
...
PMID:Autosomal dominant osteosclerosis. 19 44
