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
Autores principales: Jagun, Olusoji Edward, Olusola-Bello, Mojisola Adejoke, Adekanmbi, Abiodun Folashade, Jagun, Omodele Oluyemisi, Oduwole, Tolani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821799/
https://www.ncbi.nlm.nih.gov/pubmed/33520059
http://dx.doi.org/10.11604/pamj.2020.37.220.21211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821799/
https://www.ncbi.nlm.nih.gov/pubmed/33520059
http://dx.doi.org/10.11604/pamj.2020.37.220.21211

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