We now also report three unrelated probands from Turkey with homozygous novel pathogenic variants (c.2683G>A:p.(Gly895Arg), c.4976_4980delGAGGA:p.(Gly1660Aspfs*3), and c.63-4_69del:p.(Gly22Serfs*6)]) in COL27A1. These three individuals, in addition to recent case reports of unrelated patients with skeletal dysplasia within the spectrum of STLS, were found to have biallelic rare protein altering variants in COL27A1 consistent with an AR disease trait [7–11] (Fig. 1f). Here, AR is linked to skeletal dysplasia.