| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5905019 | European Journal of Medical Genetics | 2012 | 5 Pages |
Abstract
⺠A heterozygous deletion of the PAX2 gene is a rare cause for RCS. ⺠Array-CGH represents an important and valuable addition in diagnostic of RCS. ⺠Ocular findings can also be found in patients with a PAX2 deletion.
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Authors
Julia Hoefele, Meike Gabert, Uwe Heinrich, Kerstin Benz, Oliver Rompel, Imma Rost, Hanns-Georg Klein, Erdmute Kunstmann,