Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

<i>SRY-box transcription factor</i> (<i>SOX</i>) genes, a recently discovered gene family, play crucial roles in the regulation of neuronal stem cell proliferation and glial differentiation during nervous system development and neurogenesis. Whole exome sequencing (WES) in pa...

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التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Current Issues in Molecular Biology
المؤلفون الرئيسيون:	Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci, Concetta Federico, Carola Costanza, Maria Bottitta, Donatella Greco, Salvatore Saccone, Maurizio Elia
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	MDPI AG 2024-06-01
الموضوعات:	next generation sequencing <i>SOX12</i> gene epilepsy neurodevelopmental delay
الوصول للمادة أونلاين:	https://www.mdpi.com/1467-3045/46/7/383