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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Authors:Arijit Mukhopadhyay  Jamie M. Kramer  Gerard Merkx  Dorien Lugtenberg  Dominique F. Smeets  Merel A. W. Oortveld  Ellen A. W. Blokland  Jyoti Agrawal  Annette Schenck  Hans van Bokhoven  Erik Huys  Eric F. Schoenmakers  Ad Geurts van Kessel  C. Erik van Nouhuys  Frans P. M. Cremers
Affiliation:1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
2. Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, 110007, India
3. Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
4. Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands
5. Canisius-Wilhelmina Ziekenhuis, Nijmegen, The Netherlands
Abstract:
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