Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant

Authors: Seiersen, Kasper V., Henriksen, Tine B., Andelius, Ted C.K., Andreasen, Lotte, Diemer, Tue, Gudmundsdottir, Gudrun, Vogel, Ida, Gjørup, Vibike, Gregersen, Pernille A.

Source: In European Journal of Medical Genetics February 2024 67