Article

A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom

2020-11-02

Abstract excerpt

The long-term prognosis of fetus with cardiac rhabdomyoma (CR) depends on the correlation with tuberous sclerosis complex(TSC). Recent years, numerous variations of uncertain significance (VUS) of TSC genes produced by high-throughput sequencing makes counseling challenging, studies until now tend to sidestep the tricky topics. Here, we integrated detailed parental phenotype, echocardiography, neuro MRI and geneti...

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Literature Corpus work: 42611863-05a4-5d34-bd5b-824c51b4a838
DOI: 10.21203/rs.3.rs-96940/v1

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