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A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability,microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes |
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| Authors: | Deborah Bartholdi Asbjørg Stray‐Pedersen Silvia Azzarello‐Burri Maria Kibaek Maria Kirchhoff Beatrice Oneda Olaug Rødningen Thomas Schmitt‐Mechelke Anita Rauch Susanne Kjaergaard |
| Affiliation: | 1. Institute of Medical Genetics, University of Zürich, Zurich, Switzerland;2. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway;3. Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;4. Department of Pediatrics, Odense University Hospital, Odense, Denmark;5. Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark;6. Pediatric Neurology, Children's Hospital, Lucerne, Switzerland |
| Abstract: | |
| Keywords: | microdeletion 13q12.3 KATNAL1 HMGB1 intellectual disability microarray analysis |