SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability
Arkaprava Roychaudhury,
Yu‐Ri Lee,
Tae‐Ik Choi
et al.
Abstract:ObjectiveIntellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X‐linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities.MethodsEmploying exome or genome sequencing, here we identified 4 missense var… Show more
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