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A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malfo...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021729/ https://www.ncbi.nlm.nih.gov/pubmed/21253318 http://dx.doi.org/10.3345/kjp.2010.53.12.1022 |