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This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved. What's already known about this topic? Six individuals between 5- and 19-year-old… Click to show full abstract
This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved. What's already known about this topic? Six individuals between 5- and 19-year-old were reported with pathogenic variants in RAC3 responsible for brain malformations involving midline What does this study add? RAC3-fetopathy is associated with fetal akinesia deformation sequence, and complex brain malformations including corpus callosum agenesis, diencephalosynapsis, kinked brainstem, and vermian hypoplasia The differential diagnoses with prenatal kinked brainstem include fetopathies related to KIAA1109, L1CAM, Walker-Warburg syndrome and tubulinopathies. The present report adds the RAC3 related condition to this list.
Journal Title: Prenatal Diagnosis
Year Published: 2022
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