| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8684418 | European Journal of Paediatric Neurology | 2018 | 23 Pages |
Abstract
The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743CÂ >Â del frameshift mutation in the DAG1 gene.
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Developmental Neuroscience
Authors
Zvi Leibovitz, Hanna Mandel, Tzipora C. Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B. Dobyns, Tally Lerman-Sagie,