Skip to Main Content

Paper Details

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
1
2023
Author NameAffiliation
Anneke T Vulto-van SilfhoutRadboud University Medical Center
Jenny C TaylorOxford Biomedical Research Centre, Oxford University
Ghada M H Abdel-SalamNational Research Centre
Megan Li
Maria Cristina DigilioBambino Gesu Children's Hospital, IRCCS
Murat GunelYale School of Medicine, Yale University
Irene ValenzuelaUniversity Hospital Vall d'Hebron, Valle Hebron Research Institute
Fowzan S AlkurayaCenter for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Saudi Arabia Department of Anatomy and Cell Biology College of Medicine, Alfaisal University
Henry HouldenUCL Queen Square Institute of Neurology, University College London
  • 1 - 9

Datasets

Release 1.2