| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5904985 | European Journal of Medical Genetics | 2012 | 5 Pages |
Abstract
⺠We report a case of a neurologic variant of WS Type 2 with a 22q13.1 deletion. ⺠Very few data is known regarding deletions within 22q13.1. ⺠The deletion includes SOX10, PLA2G6, KCNJ4 and PICK1 genes. ⺠We compare the clinical features of our patient to other analogous reported cases.
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Authors
Elisavet Siomou, Emmanouil Manolakos, Michael Petersen, Loretta Thomaidis, Yolanda Gyftodimou, Sandro Orru, Ioannis Papoulidis,