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    Open Access

    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

    Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondyla...

    Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad… in npj Genomic Medicine (2023)

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