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

We present the clinical findings in an infant girl with concurrent achondroplasia and SHOX deficiency. We conclude that the clinical findings in infancy are phenotypically compatible with achondroplasia, with no features of the SHOX deficiency evident. This may change over time, as some features of SHOX-deficiency only become evident later in life.PMID:38070826 | DOI:10.1016/j.ejmg.2023.104894

Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Kasper V Seiersen Tine B Henriksen Ted C K Andelius Lotte Andreasen Tue Diemer Gudrun Gudmundsdottir Ida Vogel Vibike Gj ørup Pernille A Gregersen Source Type: research