Associated Papers
Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly.
Birnbaum R et al.
Prenatal Diagnosis, 2024
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Semino F et al.
Human Mutation, 2021
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