Clinical characteristics of the patients carrying de novo SHANK2 and SHANK3 mutations.
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aMutations not present in the mother and father not tested (DNA unavailable). M, Male; F, Female; CNV, Copy Number Variant; del, deletion; CSV, Coding-Sequence Variant; DD, developmental delay; ID, intellectual disability; GTCS, Generalized Tonic-Clonic Seizures; AAO, Age at onset; y, years; SD, Standard Deviation.Clinical characteristics of the patients carrying de novo SHANK2 and SHANK3 mutations.
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2015-12-02
