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Paper Details

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
0
2023
Author NameAffiliation
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Linyan MengGreat Ormond Street Hospital
Seema R LalaniGreat Ormond Street Hospital
Jenny C TaylorUniversity of Oxford and Oxford NIHR Biomedical Research Centre
Lihadh Al-GazaliCollege of Medicine and Health Sciences, United Arab Emirates University
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center
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 LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
Wendy K ChungBoston Children's Hospital and Harvard Medical School Boston
Wendy K ChungBoston Children's Hospital and Harvard Medical School Boston
Henry HouldenUniversity College London, Institute of Neurology
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