| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2817161 | Gene | 2013 | 4 Pages |
Abstract
•Deletion of the last exon of SHANK3 results in the full 22q13.3 deletion syndrome.•Our case shows no positive correlation between deletion size and clinical outcome.•Developmental regression can reflect role of SHANK3 in synaptogenesis.
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Genetics
Authors
Marta Macedoni-Lukšič, Danijela Krgović, Boris Zagradišnik, Nadja Kokalj-Vokač,