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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...
Uloženo v:
| Vydáno v: | J Clin Diagn Res |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
JCDR Research and Publications (P) Limited
2015
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| Témata: | |
| On-line přístup: | 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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