Advances in the treatment of achondroplasia

Achondroplasia is a condition resulting from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the predominant etiology of short height in humans. Physical phenotypic characteristics encompass small stature, macrocephaly with frontal bossing, midface hypoplas...

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Bibliographic Details
Main Author: Patrycja Jędrzejewska-Rzezak
Format: Article
Language:English
Published: Kazimierz Wielki University 2025-04-01
Series:Journal of Education, Health and Sport
Subjects:
Online Access:https://apcz.umk.pl/JEHS/article/view/59589
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