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Paper Details

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
13
2021
Cerebellar Hypoplasia, Developmental Delay, Dystonia, MED27, MED27 Variants, MED27 variants, Mediator complex subunit 27, Mediator multiprotein complex, Patient, RNA polymerase II, Seizures, axial hypotonia, cataracts, cerebellar hypoplasia, developmental delay, distal spasticity, dystonic movements, human, intellectual disability, neurodevelopmental syndrome, patients
Author NameAffiliation
Linyan MengBaylor College of Medicine
Linyan Meng
Henry HouldenUniversity College London Institute of Neurology
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
Michael F WanglerBaylor College of Medicine
Michael F WanglerChildren's Hospital, University of Helsinki and Helsinki University Hospital
Michael F WanglerJan and Dan Neurological Research Institute, Texas Children's Hospital
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