Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

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作者： Jacqueline A C,Goos ^[1] ; Aimee L,Fenwick ^[2] ; Sigrid M A,Swagemakers ^[3] ; Simon J,McGowan ^[4] ; Samantha J L,Knight ^[5] ; Stephen R F,Twigg ^[2] ; A Jeannette M,Hoogeboom ^[6] ; Marieke F,van Dooren ^[6] ; Frank J,Magielsen ^[6] ; Steven A,Wall ^[7] ; Irene M J,Mathijssen ^[1] ; Andrew O M,Wilkie ^[2] ; Peter J,van der Spek ^[7] ; Ans M W,van den Ouweland ^[3]

作者单位： Erasmus MC, Department of Plastic and Reconstructive Surgery and Hand Surgery, University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[1] Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK. ^[2] Erasmus MC, Department of Bioinformatics, University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[3] Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK. ^[4] NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. ^[5] Erasmus MC, Department of Clinical Genetics, University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[6] Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK. ^[7]

关键词 TCF12-related craniosynostosis exon duplication intragenic exon deletion rearrangements