Schinzel-Giedion syndrome caused by de novo mutation in the SETBP1 gene:a case report
Schinzel-Giedion syndrome caused by SETBP1 gene mutation is a rare neurodevelopmental disorder characterized by neurodevelopmental disorders,multi-organ congenital developmental abnormalities(such as skeletal anomalies,urinary and renal malformations,heart defects,etc.),and an increased risk of childhood cancer.The clinical data and diagnosis and treatment process of a patient with Schinzel-Giedion syndrome related neurodevelopmental disorders caused by SETBP1 gene mutation were reported in this article.The clinical characteristics of the disease were analyzed through literature review to improve clinical doctors'understanding of the disease.
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