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Endocrinological Features and Epileptic Encephalopathy in COX Deficiency Due to SCO1 Mutations: Case Series and Review of Literature

Alessandro Barbato,Giulia Gori,Michele Sacchini,Francesca Pochiero,Sara Bargiacchi,Giovanna Traficante,Viviana Palazzo,Lucia Tiberi,Claudia Bianchini,Davide Mei,Elena Parrini,Tiziana Pisano,Elena Procopio,Renzo Guerrini,Angela Peron,Stefano Stagi

ENDOCRINE CONNECTIONS（2024）

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关键词
COX deficiency,developmental epileptic encephalopathy phenotypes,epilepsy,growth,hypopituitarism,pathogenic variant,SCO1 gene,short stature
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