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Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.

Hairui SunSiyao ZhangJingyi WangXiaoxue ZhouHongjia ZhangHuixia YangYi-Hua He
Published in: BMC medical genomics (2022)
We report the first prenatal case with the SMARCC2 variant. The presence of CHD further broadens the phenotypic spectrum of SMARCC2-related disease.
Keyphrases
  • pregnant women
  • copy number
  • gene expression
  • drug induced