Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Molecular genetics & genomic medicine（2023）
Abstract
A new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.
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Key words
Opitz GBBB syndrome,congenital heart defects,total anomalous pulmonary venous connection
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