A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant
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GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of GATA4 in a 46,XY DSD patient with an atrial septal defect, identified by who... ...
