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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 ...
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
(2017-11-09)
Background:
Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe ...