Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil J, Lacombe D, Mundlos S, Horn D, Spielmann M. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European Journal of Human Genetics. 2016 Jan 06;24(8):1132–6. doi: 10.1038/ejhg.2015.266.