Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.
Panlai ShiConghui WangYuting ZhengXiangdong KongPublished in: BMC medical genomics (2021)
Our study makes a significant contribution to the literature because this relatively rare condition can have significant phenotypical consequences, and an understanding of the inheritance and variability of phenotypes caused by this mutation is essential to an increased understanding of the condition.