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Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures
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. Phenoty...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443074/ https://www.ncbi.nlm.nih.gov/pubmed/37614307 http://dx.doi.org/10.1002/jbm4.10755 |