Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Abstract Background Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopmental comorbidities (NDCs), including autism spectrum disorder (ASD), ep...

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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Ruohao Wu, Xiaojuan Li, Zhe Meng, Pinggan Li, Zhanwen He, Liyang Liang
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	BMC 2024-05-01
سلاسل:	Orphanet Journal of Rare Diseases
الموضوعات:	Trio-based whole-exome sequencing Neurodevelopmental delay Neurodevelopmental comorbidities Autism spectrum disorder Head circumference abnormality Diagnostic yield
الوصول للمادة أونلاين:	https://doi.org/10.1186/s13023-024-03214-w
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!