Nature1y
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
He survives following a matched related BMT with essentially normal appearing bones by X-ray and by bone marrow biopsy. No evidence of osteopetrosis has been observed in either parent, his sister ...
Medscape12y
Successful Staged Hip Replacement in Septic Hip Osteoarthritis in Osteopetrosis
Background Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is ...