Mutations of the Gene SGMS2 were Identified as the Cause of the Disease (IMAGE)
Caption
Bone health of the study participants was evaluated by radiographs (A, B) and bone biopsy samples (C, D). The patients had in childhood e.g. recurrent forearm fractures (A) and spinal compression fractures (B). Histological evaluation of the bone biopsies showed (C) that bone structure (green) especially in the cortical bone was abnormally fragile and osteoporotic. More detailed evaluation of the bone biopsies showed that the degree of bone mineralization was reduced and the bone tissue was porous (D), leading to reduced bone strength.
Credit
Outi Mäkitie Lab
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