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Thanatophoric Skeletal Dysplasia: A Case Report
Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We enco...
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| Publicado no: | JNMA J Nepal Med Assoc |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Journal of the Nepal Medical Association
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7580312/ https://ncbi.nlm.nih.gov/pubmed/32347827 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.31729/jnma.4488 |
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