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Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies
Neurodevelopmental disorders (NDDs) are a group of highly prevalent, clinically and genetically heterogeneous pediatric disorders comprising, according to the Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-V), intellectual disability, developmental delay, autism spectrum diso...
Shranjeno v:
| izdano v: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
MDPI
2021
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7915150/ https://ncbi.nlm.nih.gov/pubmed/33562463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12020229 |
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