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Thanatophoric dysplasia: a case report
A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that...
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| Publicado en: | Pan Afr Med J |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
The African Field Epidemiology Network
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7821799/ https://ncbi.nlm.nih.gov/pubmed/33520059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11604/pamj.2020.37.220.21211 |
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