| 单词 |
osteogenesis imperfecta type 9 |
| 释义 |
osteogenesis imperfecta type 9 osteogenesis imperfecta type 9 A connective tissue disorder (OMIM:259440) characterised by bone fragility, low bone mass and bowing of limbs due to multiple fractures; short limb dwarfism and blue sclerae are often, but not invariably present.
Molecular pathology
PPIB defects on chromosome 15q21-q22 cause osteogenesis imperfecta type 9. |
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