Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Journal: American Journal of Human Genetics

Published: 2018-11-01

DOI: 10.1016/j.ajhg.2018.09.012

Affiliations: 31

Authors: 26

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Institutions FC
Department of Genetics, RUG, Netherlands 0.08
GeneDx, United States of America (USA) 0.08
Queen Elizabeth University Hospital Glasgow, United Kingdom (UK) 0.06
Biomedical Research Networking Center on Rare Diseases (CIBERER), Spain 0.06
Peninsula Clinical Genetics (PCG), Royal Devon & Exeter NHS Foundation Trust, United Kingdom (UK) 0.04
Wellcome Trust Sanger Institute, United Kingdom (UK) 0.04
Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Spain 0.04
Northern Genetics Service, NUTH, United Kingdom (UK) 0.04
Department of Pediatrics, CU, United States of America (USA) 0.04
Alberta Children's Hospital Research Institute (ACHRI), Canada 0.04
Clinical Genetics Service, Liverpool Women's Hospital, United Kingdom (UK) 0.04
University of Arkansas for Medical Sciences (UAMS), United States of America (USA) 0.04
Saint Francis Genetics, United States of America (USA) 0.04
Hadassah Medical Center, HUJI, Israel 0.04
Department of Human Genetics, RU, Netherlands 0.04
Institute of Biomedical and Clinical Science, University of Exeter, United Kingdom (UK) 0.04
Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, United Kingdom (UK) 0.04
Faculty of Medicine, University of Osijek, Croatia 0.02
Department of Paediatrics, UniMelb, Australia 0.02
Institute of Medical Genetics, University Hospital of Wales, United Kingdom (UK) 0.02
West of Scotland Clinical Genetics Service, NHSGGC, United Kingdom (UK) 0.02
Children's Hospital Srebrnjak, Croatia 0.02
Department of Cardiology, BCH, United States of America (USA) 0.02
BioCruces Health Research Institute, Spain 0.02
Division of Genetics and Genomics, BCH, United States of America (USA) 0.02
Victorian Clinical Genetics Services (VCGS), MCRI, Australia 0.02
Institute of Cancer and Genetics, Cardiff University, United Kingdom (UK) 0.02
John Radcliffe Hospital, United Kingdom (UK) 0.01
Oxford MRC WIMM Centre for Computational Biology, United Kingdom (UK) 0.01
Oxford MRC Computational Genomics Analysis and Training Programme (CGAT), United Kingdom (UK) 0.01

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