A carregar...
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...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Pediatric Society
2010
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3021729/ https://ncbi.nlm.nih.gov/pubmed/21253318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2010.53.12.1022 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|