Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report

Skeletal dysplasia, also called osteochondrodysplasia, is a category of disorders affecting bone development and children’s growth. Up to 552 genes, including fibroblast growth factor receptor 3 (<i>FGFR3</i>), have been implicated by pathogenic variations in its genesis. Frequently iden...

Full description

Bibliographic Details
Main Authors: Zangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, Gilles Millat, Sarah Langlais, Bénédicte Pontier, Marie Biard, Mathis Lepage, Christine Francannet, Fanny Laffargue, Isabelle Creveaux
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Genes
Subjects:
osteochondrodysplasia
skeletal dysplasia
achondroplasia
hypochondroplasia
fibroblast growth factor receptor 3
exonization
Online Access:https://www.mdpi.com/2073-4425/15/2/225

Internet

https://www.mdpi.com/2073-4425/15/2/225

Similar Items