Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a < b > < i > POLR1D < /i > < /b > p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis

Discussion: Our study results pose a great challenge to prenatal diagnosis of TCS. The prenatal diagnosis cannot only rely on genetic testing. Instead, an early detailed sonographic survey will be helpful for the identification of TCS.Mol Syndromol

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Source: Molecular Syndromology - February 8, 2022 Category: Molecular Biology Source Type: research