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Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)
INTRODUCTION: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms. METHODOLOGY AND RESULTS: Two relatives (cousins) in a...
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| Publicat a: | Bone Rep |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6997811/ https://ncbi.nlm.nih.gov/pubmed/32025536 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2020.100245 |
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