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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
(2017-08-30)
Objective: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD).
Methods: Patients with STXBP1 ...
Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis
(2018)
Abstract:
IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2- like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional ...