| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5904987 | European Journal of Medical Genetics | 2012 | 6 Pages |
Abstract
⺠We report on an atypical and inherited 22q11.2 duplication between LCR-B and LCR-D. ⺠The phenotype includes motor delay, language disorders and mild facial dysmorphism. ⺠We confirm incomplete penetrance and variable expressivity of this duplication.
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Authors
Céline Pebrel-Richard, Stéphan Kemeny, Laetitia Gouas, Eléonore Eymard-Pierre, Nathalie Blanc, Christine Francannet, Andreï Tchirkov, Carole Goumy, Philippe Vago,