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Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis

3 Nov 2025

Abstract excerpt

BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature. The birth prevalence of HCH remains poorly defined. In addition, the reported birth prevalence of ACH in Europe and globally may not be applicable to France, given its relatively high rate of pregnancy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41184854
DOI: 10.1186/s13023-025-04069-5

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