HIGHLIGHTS
- who: TYPE and colleagues from the Emory University, United States have published the article: The different clinical facets of SYN1 -related neurodevelopmental disorders, in the Journal: (JOURNAL)
- what: The authors focus on the X-linked gene SYN1. The authors report 31 unpublished individuals from 22 families harboring variants in SYN1 and review variants and clinical features published in the literature to deep-phenotype SYN1-related disorders and explore potential genotype-phenotype correlations.
- future: Future studies will be required to understand the mechanisms by which specific pathogenic SYN1 variants result in a range of . . .
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