| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5904915 | European Journal of Medical Genetics | 2013 | 5 Pages |
Abstract
⺠We report a de novo 16q24.1 interstitial duplication in a woman with a severe phenotype. ⺠The involvement of the 16q24 band or 16q24-qter region cause similar characteristics. ⺠The pure trisomy 16q24.1 may contain important genes associated with some features. ⺠Our data suggest a possible role of COX4I1 in the paucity in adipose tissue. ⺠MIR1910 gene may be involved in brain development abnormalities or psychomotor delay.
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Authors
Sylvia Quéméner-Redon, Caroline Bénech, Séverine Audebert-Bellanger, Gaëlle Friocourt, Marc Planes, Philippe Parent, Claude Férec,