De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Affiliations

• ¹ Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ² Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
• ³ Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
• ⁴ Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ⁵ Department of Neurology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
• ⁶ Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany.
• ⁷ Department of Neuropaediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
• ⁸ Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
• ⁹ Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
• ¹⁰ Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
• ¹¹ Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
• ¹² Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
• ¹³ North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom.
• ¹⁴ All Wales Medical Genomics Service/Pennaeth Labordy Genomeg Cymru Gyfan, University Hospital of Wales, Heath Park, Cardiff, United Kingdom.
• ¹⁵ Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
• ¹⁶ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.