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: UMLS:C0039730 (
thalassemia
)
10,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We present the case of a 71-year-old patient with rugger-jersey vertebrae who was referred to us with a tentative diagnosis of Paget's disease. After considering other conditions causing similar bone sclerosis, such as metastases, lymphoma,
renal osteodystrophy
, myelofibrosis,
thalassemia
, and Gaucher's disease, we agreed on a diagnosis of osteopetrosis. This is a rare entity of genetic origin, manifest by variable generalized symmetric skeletal sclerosis caused by defective bone resorption.
...
PMID:Rugger-jersey vertebrae. 1907 34
