Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

Abstract excerpt

With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As a result, the need to understand the importance of genetic variants and its effect on the clinical phenotype is increasing. Here, we report on the largest cohort of patients with HNRNPU...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Hereditary Neurological Disorders
• Share to RNA regulation and disease
• Share to Viral Infections and Immunology Research