Mutations in this gene were previously known to be associated with skeletal dysplasia, such as dental anomalies and short stature (DASS; OMIM#601216), geleophysic dysplasia 3 (GPHYSD3; OMIM#617809), and acromicric dysplasia (ACMICD; OMIM #102370) [7–9]. This evidence concerns the gene LTBP3 and skeletal dysplasia.