Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
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DOI: 10.1016/j.ejmg.2020.104124
Abstract: The combination of congenital heart defects and vertebral anomalies with or without additional abnormalities has been reported in many genetic disorders. We describe a family in which four consecutive pregnancies were characterized by the combination… read more here.
Keywords: defects vertebral; heart; variants etv2; congenital heart ... See more keywords