Browsing by Subject "Whole genome sequencing (WGS)"
Now showing items 1-3 of 3
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An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
(2018-04-26)Abstract: Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. ... -
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 ...