Recent research identifies novel compound heterozygous variants in the ATAD3A gene associated with Harel-Yoon syndrome, which presents with congenital cataracts and dilated cardiomyopathy. This discovery enhances understanding of the genetic basis of this rare condition.
novel compound heterozygous atad3a variants in harel yoon syndrome with congenital cataracts and dilated cardiomyopathy
Original title: “Novel Compound Heterozygous ATAD3A Variants in Harel-Yoon Syndrome With Congenital Cataracts and Dilated Cardiomyopathy.”