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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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Detalhes bibliográficos
Publicado no:J Clin Diagn Res
Main Authors: Sharma, Manisha, Jyoti, Jain, Rekha, Devendra
Formato: Artigo
Idioma:Inglês
Publicado em: JCDR Research and Publications (P) Limited 2015
Assuntos:
Acesso em linha: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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