Autor: Marion Aubert Mucca
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Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasia
European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-wConfirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
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Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasia
European Journal of Human Genetics, Published online: 07 July 2026; doi:10.1038/s41431-026-02176-wConfirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia