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SMC1A Epilepsy Syndrome: Clinical Data from a Large International Cohort.

Elisabetta Gibellato,Paola Cianci,Milena Mariani,Barbara Parma,Sylvia Huisman,Robert Smigiel,Anne-Marie Bisgaard,Valentina Massa,Cristina Gervasini,Alex Moretti,Alessandro Cattoni,Andrea Biondi,Angelo Selicorni

American Journal of Medical Genetics Part A（2024）

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关键词
cohesinopathy,Cornelia de Lange syndrome spectrum,developmental disability,drug-resistant epilepsy,SMC1A gene
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