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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1891
Abstract: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the healthârelated quality of life (HRQoL) of individuals and…
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Keywords:
experiences children;
adolescents living;
achondroplasia;
living achondroplasia ... See more keywords