Robuta

https://pubmed.ncbi.nlm.nih.gov/11595175/ The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a... Mutations in the sedlin gene cause spondyloepiphyseal dysplasia tarda (SEDT), a rare X-linked chondrodysplasia. Affected males suffer short stature,...