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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Bibliographic Details
Main Authors: Olusoji Edward Jagun, Mojisola Adejoke Olusola-Bello, Abiodun Folashade Adekanmbi, Omodele Oluyemisi Jagun, Tolani Oduwole
Format: Article
Language:English
Published: The Pan African Medical Journal 2020-11-01
Series:The Pan African Medical Journal
Subjects:
Online Access: https://www.panafrican-med-journal.com/content/article/37/220/pdf/220.pdf