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A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A |
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| Authors: | Damien Lederer Debbie Shears Valérie Benoit Christine Verellen‐Dumoulin Isabelle Maystadt |
| Affiliation: | 1. Center for Human Genetics, IPG, Charleroi, (Gosselies), Belgium;2. Department of Clinical Genetics, Churchill Hospital, Oxford, UK |
| Abstract: | |
| Keywords: | Kabuki syndrome X‐linked KDM6A seizure |