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Thanatophoric Dysplasia: A Case Report
Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided i...
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| Publié dans: | J Clin Diagn Res |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
JCDR Research and Publications (P) Limited
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4668482/ https://ncbi.nlm.nih.gov/pubmed/26675119 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2015/13201.6702 |
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