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Thanatophoric dysplasia: a case report

A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that...

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Detalles Bibliográficos
Publicado en:Pan Afr Med J
Main Authors: Jagun, Olusoji Edward, Olusola-Bello, Mojisola Adejoke, Adekanmbi, Abiodun Folashade, Jagun, Omodele Oluyemisi, Oduwole, Tolani
Formato: Artigo
Idioma:Inglês
Publicado: The African Field Epidemiology Network 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7821799/
https://ncbi.nlm.nih.gov/pubmed/33520059
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11604/pamj.2020.37.220.21211
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