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Paper Details

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
23
2021
A1, PLXNA1, PLXNA1 variants, Plexin-, Plexin-A1 domains, brain anomalies, brain, and eye anomalies, cerebral and eye anomalies, developmental delay, extracellular, eye anomalies, global developmental delay, missense variants, monoallelic, monoallelic variants, neurodevelopmental disorder, neurodevelopmental syndrome, patients, plxna1a, plxna1b, seizures, zebrafish, zebrafish homologs plxna1a
Author NameAffiliation
Zeynep Coban AkdemirBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Centre
Fowzan S AlkurayaCollege of Medicine, Alfaisal University
Henry HouldenUCL Queen Square Institute of Neurology, University College London
Elise ValkanasCenter for Mendelian Genomics, The Broad Institute of Massachusetts Institute of Technology and Harvard
Daniel G MacArthurBroad Institute of Harvard and Massachusetts Institute of Technology
Daniel G MacArthurHarvard Medical School
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of Harvard and Massachusetts Institute of Technology
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurHarvard Medical School
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Jennifer E PoseyBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
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