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With the rapid development of genetic detection technology, especially next‐generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The… Click to show full abstract
With the rapid development of genetic detection technology, especially next‐generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is to make a definitive diagnosis of a girl with neonatal hypotonia, severe global developmental delay, seizures and mild facial dysmorphism.
Keywords:
delay seizures;
developmental delay;
novel novo;
severe global;
global developmental
Journal Title: International Journal of Developmental Neuroscience
Year Published: 2022
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Journal Title: International Journal of Developmental Neuroscience
Year Published: 2022
Link to full text (if available)
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recommendations!