Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures
ABSTRACT Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal‐recessive disease caused by mutations in the leucine‐rich repeat kinase 1 (LRRK1) gene. It is a sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones, predominantly at the metaphyses and vertebrae...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2023-08-01
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| Collection: | JBMR Plus |
| Sujets: | |
| Accès en ligne: | https://doi.org/10.1002/jbm4.10755 |
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