This CNV also involved the duplication of the very conserved <i>RPL13</i> gene, which could have a role for the skeletal phenotype of this patient, knowing the high level of gene expression in bone tissue and also the association with spondyloepimetaphyseal dysplasia Isidor Toutain type, in case of splicing mutations. Here, RPL13 is linked to spondyloepimetaphyseal dysplasia, Isidor-Toutain type.