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Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8 |
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| Authors: | Jana Drabova Eva Seemanova Miroslava Hancarova Radka Pourova Martin Horacek Tereza Jancuskova Sona Pekova Drahuse Novotna Zdenek Sedlacek |
| Affiliation: | 1. Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic;2. Dent Clinic, HavlickuvBrod, Czech Republic;3. Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic;4. Laboratory of Molecular Diagnostics, synlab genetics, Prague, Czech Republic |
| Abstract: | |
| Keywords: | Microdeletion 14q11.2 intellectual disability macrocephaly orthognathic deformities SUPT16H CHD8 |