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Article

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

Genes - 10 Feb 2024

Ouedraogo Zangbéwendé Guy, Janel Caroline, Janin Alexandre, Millat Gilles, Langlais Sarah, Pontier Bénédicte, Biard Marie, Lepage Mathis, Francannet Christine, Laffargue Fanny, Creveaux Isabelle

Abstract excerpt

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 (FGFR3), have been implicated by pathogenic variations in its genesis. Frequently identified causal mutations in osteochondrodysplasia arise in the coding sequences of the FGFR3 gene: c.1138G>A and c.1138G>C in...

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PMID: 38397214
DOI: 10.3390/genes15020225
PMCID: PMC10888313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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