MIA3 and Platyspondyly: In humans, complete loss of TANGO1 is embryonically lethal due to an absence of bone mineralisation (Guillemyn et al., 2021) and point mutations in TANGO1 that result in exon skipping leads to a range of complex skeletal abnormalities (including short stature, osteopenia, and platyspondyly), insulin-dependent diabetes mellitus and sensorineural hearing loss (Cauwels et al., 2005; Lekszas et al., 2020).