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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion |
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| Authors: | Alexandra Topa Lena Samuelsson Lovisa Lovmar Göran Stenman Lars Kölby |
| Affiliation: | 1. Department of Pathology and Genetics, University of Gothenburg, The Sahlgrenska Academy, Gothenburg, Sweden;2. Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden;3. Department of Plastic Surgery, University of Gothenburg, The Sahlgrenska Academy, Gothenburg, Sweden |
| Abstract: | |
| Keywords: | 10q deletion craniosynostosis Kabuki syndrome KMT2D |