A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability
Abstract
Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in both intellectual and behavioral functioning. It can occur in non‐syndromic and syndromic forms involving multiple organs. While the majority of genetic variants linked to ID are de novo, inherited variants are also detected in some forms. Here, we report a consanguineous Lebanese family presenting with an autosomal recessive syndromic ID characterized...
Paper Details
Title
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability
Published Date
Aug 26, 2020
Journal
Volume
98
Issue
3
Pages
288 - 292
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History