The Prevalence of the Chimeric <i>TNXA/TNXB</i> Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency

Abstract

In summary, about 14% of patients with 21-OHD may have chimeric TNXA/TNXB gene mutations in our study and most of them showed EDS-related clinical symptoms. The correlation between CAH-X genotypes and clinical features in connective tissue, like joint or skin, needs to be further investigated.