European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-w
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasiaEuropean Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-w
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia