RPL13 and spondyloepimetaphyseal dysplasia: The third mutation, altering the splice donor site in intron 5, leads to partial intron retention, thus generating an elongated protein (p.N159_V160ins18).(7) This mutation has now been reported twice and a different mutation affecting the same nucleotide has been reported once before.(7) Interestingly, all the currently known RPL13 mutations associated with SEMD cluster within the same region, suggesting that this region is critical for eL13 function, especially in skeletal tissues.