Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Journal of the Nepal Medical Association
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580312/ https://www.ncbi.nlm.nih.gov/pubmed/32347827 http://dx.doi.org/10.31729/jnma.4488 |